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nstd54 (Cooper et al. 2011)

Organism:
Human
Study Type:
Case-Control
Submitter:
Evan Eichler
Description:
Copy Number Variants from 15,767 cases of Developmental Delay and Intellectual Disability from Signature Genomics, and 8329 Control Samples. This study contains samples in common with Coe et al. 2014. Due to analysis differences (see manuscripts) please use the case samples (Sampleset 1) from only one of these submissions. Control sample sets do not overlap and may be combined. See Variant Summary counts for nstd54 in dbVar Variant Summary.
Publication(s):
Cooper et al. 2011

Detailed Information: Download 81345 Variant Regions, Download 468909 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr15,66034,564RemappedNC_000001.11
NC_000002.12Chr25,52535,212RemappedNC_000002.12
NC_000003.12Chr34,60531,444RemappedNC_000003.12
NC_000004.12Chr44,02735,188RemappedNC_000004.12
NC_000005.10Chr54,62427,617RemappedNC_000005.10
NC_000006.12Chr65,39632,216RemappedNC_000006.12
NC_000007.14Chr74,44725,299RemappedNC_000007.14
NC_000008.11Chr84,02424,686RemappedNC_000008.11
NC_000009.12Chr93,60123,786RemappedNC_000009.12
NC_000010.11Chr103,47424,333RemappedNC_000010.11
NC_000011.10Chr114,49724,189RemappedNC_000011.10
NC_000012.12Chr124,68621,212RemappedNC_000012.12
NC_000013.11Chr132,66515,781RemappedNC_000013.11
NC_000014.9Chr143,83615,139RemappedNC_000014.9
NC_000015.10Chr154,11015,529RemappedNC_000015.10
NC_000016.10Chr163,45614,095RemappedNC_000016.10
NC_000017.11Chr172,65113,736RemappedNC_000017.11
NC_000018.10Chr182,04413,591RemappedNC_000018.10
NC_000019.10Chr192,61212,361RemappedNC_000019.10
NC_000020.11Chr201,94310,037RemappedNC_000020.11
NC_000021.9Chr211,2815,014RemappedNC_000021.9
NC_000022.11Chr221,5537,449RemappedNC_000022.11
NT_187364.1Chr1|NT_187364.111RemappedNT_187364.1
NT_187367.1Chr1|NT_187367.133RemappedNT_187367.1
NT_187514.1Chr1|NT_187514.111RemappedNT_187514.1
NT_187515.1Chr1|NT_187515.11818RemappedNT_187515.1
NT_187516.1Chr1|NT_187516.128103RemappedNT_187516.1
NT_187517.1Chr1|NT_187517.145RemappedNT_187517.1
NT_187518.1Chr1|NT_187518.11133RemappedNT_187518.1
NT_187519.1Chr1|NT_187519.116263RemappedNT_187519.1
NT_187521.1Chr1|NT_187521.1223RemappedNT_187521.1
NT_187646.1Chr1|NT_187646.11032RemappedNT_187646.1
NW_003315905.1Chr1|NW_003315905.166RemappedNW_003315905.1
NW_003315907.2Chr1|NW_003315907.2914RemappedNW_003315907.2
NW_009646194.1Chr1|NW_009646194.111RemappedNW_009646194.1
NW_009646195.1Chr1|NW_009646195.122RemappedNW_009646195.1
NW_011332687.1Chr1|NW_011332687.11759RemappedNW_011332687.1
NW_011332688.1Chr1|NW_011332688.119318RemappedNW_011332688.1
NW_012132914.1Chr1|NW_012132914.153226RemappedNW_012132914.1
NW_014040927.1Chr1|NW_014040927.177RemappedNW_014040927.1
NW_015495298.1Chr1|NW_015495298.11928RemappedNW_015495298.1
NW_017852928.1Chr1|NW_017852928.159288RemappedNW_017852928.1
NW_018654706.1Chr1|NW_018654706.122RemappedNW_018654706.1
NW_018654707.1Chr1|NW_018654707.1761,346RemappedNW_018654707.1
NW_018654708.1Chr1|NW_018654708.144RemappedNW_018654708.1
NT_187522.1Chr2|NT_187522.143289RemappedNT_187522.1
NT_187523.1Chr2|NT_187523.1163553RemappedNT_187523.1
NT_187524.1Chr2|NT_187524.178RemappedNT_187524.1
NT_187525.1Chr2|NT_187525.12658RemappedNT_187525.1
NT_187527.1Chr2|NT_187527.13163RemappedNT_187527.1
NT_187528.1Chr2|NT_187528.111RemappedNT_187528.1
NT_187529.1Chr2|NT_187529.1253522RemappedNT_187529.1
NT_187530.1Chr2|NT_187530.111RemappedNT_187530.1
NT_187647.1Chr2|NT_187647.1163553RemappedNT_187647.1
NT_187648.1Chr2|NT_187648.11117RemappedNT_187648.1
NW_003315908.1Chr2|NW_003315908.133RemappedNW_003315908.1
NW_003315909.1Chr2|NW_003315909.122RemappedNW_003315909.1
NW_011332689.1Chr2|NW_011332689.177RemappedNW_011332689.1
NW_011332690.1Chr2|NW_011332690.166RemappedNW_011332690.1
NW_012132915.1Chr2|NW_012132915.156RemappedNW_012132915.1
NW_018654709.1Chr2|NW_018654709.122RemappedNW_018654709.1
NT_187678.1Chr3|NT_187678.13558RemappedNT_187678.1
NT_187688.1Chr3|NT_187688.13448RemappedNT_187688.1
NT_187689.1Chr3|NT_187689.13760RemappedNT_187689.1
NT_187690.1Chr3|NT_187690.13558RemappedNT_187690.1
NT_187691.1Chr3|NT_187691.13558RemappedNT_187691.1
NT_187532.1Chr3|NT_187532.13760RemappedNT_187532.1
NT_187534.1Chr3|NT_187534.155RemappedNT_187534.1
NT_187535.1Chr3|NT_187535.111RemappedNT_187535.1
NT_187537.1Chr3|NT_187537.1537RemappedNT_187537.1
NT_187538.1Chr3|NT_187538.133RemappedNT_187538.1
NT_187539.1Chr3|NT_187539.1810RemappedNT_187539.1
NT_187649.1Chr3|NT_187649.13448RemappedNT_187649.1
NW_009646197.1Chr3|NW_009646197.111RemappedNW_009646197.1
NW_009646198.1Chr3|NW_009646198.145RemappedNW_009646198.1
NW_011332691.1Chr3|NW_011332691.11732RemappedNW_011332691.1
NW_017363813.1Chr3|NW_017363813.111RemappedNW_017363813.1
NW_018654711.1Chr3|NW_018654711.122RemappedNW_018654711.1
NW_019805488.1Chr3|NW_019805488.11319RemappedNW_019805488.1
NW_019805489.1Chr3|NW_019805489.149282RemappedNW_019805489.1
NW_019805490.1Chr3|NW_019805490.133RemappedNW_019805490.1
NW_019805492.1Chr3|NW_019805492.123RemappedNW_019805492.1
NT_187679.1Chr4|NT_187679.12740RemappedNT_187679.1
NT_113793.3Chr4|NT_113793.344RemappedNT_113793.3
NT_167250.2Chr4|NT_167250.244RemappedNT_167250.2
NT_187540.1Chr4|NT_187540.155RemappedNT_187540.1
NT_187542.1Chr4|NT_187542.122RemappedNT_187542.1
NT_187543.1Chr4|NT_187543.1812RemappedNT_187543.1
NT_187545.1Chr4|NT_187545.177RemappedNT_187545.1
NT_187650.1Chr4|NT_187650.11015RemappedNT_187650.1
NW_003315915.1Chr4|NW_003315915.122373RemappedNW_003315915.1
NW_013171799.1Chr4|NW_013171799.11115RemappedNW_013171799.1
NW_013171800.1Chr4|NW_013171800.122RemappedNW_013171800.1
NW_013171801.1Chr4|NW_013171801.144RemappedNW_013171801.1
NW_017363814.1Chr4|NW_017363814.156RemappedNW_017363814.1
NT_187546.1Chr5|NT_187546.11924RemappedNT_187546.1
NT_187547.1Chr5|NT_187547.12634RemappedNT_187547.1
NT_187548.1Chr5|NT_187548.137115RemappedNT_187548.1
NT_187550.1Chr5|NT_187550.11722RemappedNT_187550.1
NT_187551.1Chr5|NT_187551.144RemappedNT_187551.1
NT_187651.1Chr5|NT_187651.14046RemappedNT_187651.1
NT_187652.1Chr5|NT_187652.11924RemappedNT_187652.1
NW_003315917.2Chr5|NW_003315917.211RemappedNW_003315917.2
NW_003315920.1Chr5|NW_003315920.167RemappedNW_003315920.1
NW_003571036.1Chr5|NW_003571036.134RemappedNW_003571036.1
NW_009646199.1Chr5|NW_009646199.133RemappedNW_009646199.1
NW_016107297.1Chr5|NW_016107297.149161RemappedNW_016107297.1
NW_016107298.1Chr5|NW_016107298.1178735RemappedNW_016107298.1
NW_018654712.1Chr5|NW_018654712.133RemappedNW_018654712.1
NT_187692.1Chr6|NT_187692.122RemappedNT_187692.1
NT_167246.2Chr6|NT_167246.26882,866RemappedNT_167246.2
NT_167247.2Chr6|NT_167247.23301,433RemappedNT_167247.2
NT_167249.2Chr6|NT_167249.27562,078RemappedNT_167249.2
NT_167245.2Chr6|NT_167245.2266825RemappedNT_167245.2
NT_113891.3Chr6|NT_113891.311RemappedNT_113891.3
NT_167244.2Chr6|NT_167244.24666RemappedNT_167244.2
NT_187552.1Chr6|NT_187552.169RemappedNT_187552.1
NT_187553.1Chr6|NT_187553.11825RemappedNT_187553.1
NT_187554.1Chr6|NT_187554.111RemappedNT_187554.1
NT_187555.1Chr6|NT_187555.133RemappedNT_187555.1
NT_187556.1Chr6|NT_187556.12336RemappedNT_187556.1
NT_187557.1Chr6|NT_187557.111RemappedNT_187557.1
NW_004166862.2Chr6|NW_004166862.244RemappedNW_004166862.2
NW_009646200.1Chr6|NW_009646200.1718RemappedNW_009646200.1
NW_012132918.1Chr6|NW_012132918.11518RemappedNW_012132918.1
NW_018654713.1Chr6|NW_018654713.1717RemappedNW_018654713.1
NT_187558.1Chr7|NT_187558.161133RemappedNT_187558.1
NT_187559.1Chr7|NT_187559.145RemappedNT_187559.1
NT_187560.1Chr7|NT_187560.166RemappedNT_187560.1
NT_187561.1Chr7|NT_187561.11111RemappedNT_187561.1
NT_187562.1Chr7|NT_187562.11772,130RemappedNT_187562.1
NT_187563.1Chr7|NT_187563.133RemappedNT_187563.1
NT_187653.1Chr7|NT_187653.162141RemappedNT_187653.1
NW_017852929.1Chr7|NW_017852929.112RemappedNW_017852929.1
NW_017852930.1Chr7|NW_017852930.146RemappedNW_017852930.1
NW_018654714.1Chr7|NW_018654714.12440RemappedNW_018654714.1
NW_018654715.1Chr7|NW_018654715.167470RemappedNW_018654715.1
NW_019805493.1Chr7|NW_019805493.11111RemappedNW_019805493.1
NT_187680.1Chr8|NT_187680.199RemappedNT_187680.1
NT_187565.1Chr8|NT_187565.12031RemappedNT_187565.1
NT_187566.1Chr8|NT_187566.124RemappedNT_187566.1
NT_187567.1Chr8|NT_187567.154375RemappedNT_187567.1
NT_187568.1Chr8|NT_187568.11112RemappedNT_187568.1
NT_187569.1Chr8|NT_187569.111RemappedNT_187569.1
NT_187570.1Chr8|NT_187570.191191RemappedNT_187570.1
NT_187571.1Chr8|NT_187571.187283RemappedNT_187571.1
NT_187572.1Chr8|NT_187572.122RemappedNT_187572.1
NT_187573.1Chr8|NT_187573.1920RemappedNT_187573.1
NT_187574.1Chr8|NT_187574.11011RemappedNT_187574.1
NT_187576.1Chr8|NT_187576.1217618RemappedNT_187576.1
NT_187577.1Chr8|NT_187577.144RemappedNT_187577.1
NT_187654.1Chr8|NT_187654.11418RemappedNT_187654.1
NT_187655.1Chr8|NT_187655.144RemappedNT_187655.1
NW_018654716.1Chr8|NW_018654716.188RemappedNW_018654716.1
NW_018654717.1Chr8|NW_018654717.1345725RemappedNW_018654717.1
NT_187578.1Chr9|NT_187578.166RemappedNT_187578.1
NW_003315928.1Chr9|NW_003315928.122RemappedNW_003315928.1
NW_003315930.1Chr9|NW_003315930.11667RemappedNW_003315930.1
NW_003315931.1Chr9|NW_003315931.1629RemappedNW_003315931.1
NW_009646201.1Chr9|NW_009646201.12448RemappedNW_009646201.1
NW_013171804.1Chr9|NW_013171804.111RemappedNW_013171804.1
NW_013171805.1Chr9|NW_013171805.111RemappedNW_013171805.1
NT_187579.1Chr10|NT_187579.14479RemappedNT_187579.1
NT_187580.1Chr10|NT_187580.166RemappedNT_187580.1
NW_003315934.1Chr10|NW_003315934.14269RemappedNW_003315934.1
NW_003315935.1Chr10|NW_003315935.111RemappedNW_003315935.1
NW_009646202.1Chr10|NW_009646202.111RemappedNW_009646202.1
NW_013171806.1Chr10|NW_013171806.136396RemappedNW_013171806.1
NW_013171807.1Chr10|NW_013171807.1651RemappedNW_013171807.1
NT_187681.1Chr11|NT_187681.138378RemappedNT_187681.1
NT_187656.1Chr11|NT_187656.123RemappedNT_187656.1
NT_187657.1Chr11|NT_187657.13070RemappedNT_187657.1
NT_187581.1Chr11|NT_187581.162219RemappedNT_187581.1
NT_187582.1Chr11|NT_187582.111RemappedNT_187582.1
NT_187583.1Chr11|NT_187583.134105RemappedNT_187583.1
NT_187584.1Chr11|NT_187584.152167RemappedNT_187584.1
NT_187585.1Chr11|NT_187585.11111RemappedNT_187585.1
NT_187586.1Chr11|NT_187586.11415RemappedNT_187586.1
NW_003315936.1Chr11|NW_003315936.1812RemappedNW_003315936.1
NW_003871074.1Chr11|NW_003871074.111RemappedNW_003871074.1
NW_011332695.1Chr11|NW_011332695.135106RemappedNW_011332695.1
NW_015148966.1Chr11|NW_015148966.125216RemappedNW_015148966.1
NW_017363816.1Chr11|NW_017363816.122RemappedNW_017363816.1
NW_019805495.1Chr11|NW_019805495.13176RemappedNW_019805495.1
NW_019805497.1Chr11|NW_019805497.199RemappedNW_019805497.1
NT_187658.1Chr12|NT_187658.134207RemappedNT_187658.1
NT_187587.1Chr12|NT_187587.160202RemappedNT_187587.1
NT_187588.1Chr12|NT_187588.122RemappedNT_187588.1
NT_187589.1Chr12|NT_187589.155RemappedNT_187589.1
NT_187590.1Chr12|NT_187590.137235RemappedNT_187590.1
NT_187591.1Chr12|NT_187591.122RemappedNT_187591.1
NW_003315938.1Chr12|NW_003315938.111RemappedNW_003315938.1
NW_003315939.2Chr12|NW_003315939.211RemappedNW_003315939.2
NW_003315941.1Chr12|NW_003315941.123RemappedNW_003315941.1
NW_003571049.1Chr12|NW_003571049.11719RemappedNW_003571049.1
NW_003571050.1Chr12|NW_003571050.12170RemappedNW_003571050.1
NW_009646204.1Chr12|NW_009646204.166RemappedNW_009646204.1
NW_011332696.1Chr12|NW_011332696.124125RemappedNW_011332696.1
NW_013171809.1Chr12|NW_013171809.122RemappedNW_013171809.1
NW_015148967.1Chr12|NW_015148967.188RemappedNW_015148967.1
NW_018654718.1Chr12|NW_018654718.182321RemappedNW_018654718.1
NW_018654719.1Chr12|NW_018654719.111RemappedNW_018654719.1
NW_018654720.1Chr12|NW_018654720.111RemappedNW_018654720.1
NT_187592.1Chr13|NT_187592.13157RemappedNT_187592.1
NT_187593.1Chr13|NT_187593.134RemappedNT_187593.1
NT_187594.1Chr13|NT_187594.13149RemappedNT_187594.1
NT_187595.1Chr13|NT_187595.133RemappedNT_187595.1
NT_187597.1Chr13|NT_187597.144RemappedNT_187597.1
NW_011332698.1Chr13|NW_011332698.12740RemappedNW_011332698.1
NW_011332699.1Chr13|NW_011332699.144RemappedNW_011332699.1
NW_011332700.1Chr13|NW_011332700.155RemappedNW_011332700.1
NW_013171811.1Chr13|NW_013171811.14175RemappedNW_013171811.1
NT_113796.3Chr14|NT_113796.311RemappedNT_113796.3
NT_187598.1Chr14|NT_187598.111RemappedNT_187598.1
NT_187599.1Chr14|NT_187599.155RemappedNT_187599.1
NT_187600.1Chr14|NT_187600.15651,344RemappedNT_187600.1
NT_187601.1Chr14|NT_187601.197526RemappedNT_187601.1
NW_018654721.1Chr14|NW_018654721.122RemappedNW_018654721.1
NW_018654722.1Chr14|NW_018654722.11420RemappedNW_018654722.1
NT_187659.1Chr15|NT_187659.1710RemappedNT_187659.1
NT_187660.1Chr15|NT_187660.1223565RemappedNT_187660.1
NT_187382.1Chr15|NT_187382.11010RemappedNT_187382.1
NT_187602.1Chr15|NT_187602.12834RemappedNT_187602.1
NT_187603.1Chr15|NT_187603.142194RemappedNT_187603.1
NT_187604.1Chr15|NT_187604.145RemappedNT_187604.1
NT_187605.1Chr15|NT_187605.122RemappedNT_187605.1
NT_187606.1Chr15|NT_187606.133RemappedNT_187606.1
NW_003315943.1Chr15|NW_003315943.122RemappedNW_003315943.1
NW_003315944.2Chr15|NW_003315944.211RemappedNW_003315944.2
NW_011332701.1Chr15|NW_011332701.1228569RemappedNW_011332701.1
NT_187383.1Chr16|NT_187383.135RemappedNT_187383.1
NT_187607.1Chr16|NT_187607.191172RemappedNT_187607.1
NT_187608.1Chr16|NT_187608.13040RemappedNT_187608.1
NT_187610.1Chr16|NT_187610.133396RemappedNT_187610.1
NW_003315945.1Chr16|NW_003315945.133RemappedNW_003315945.1
NW_012132921.1Chr16|NW_012132921.133RemappedNW_012132921.1
NW_013171813.1Chr16|NW_013171813.111RemappedNW_013171813.1
NW_017852933.1Chr16|NW_017852933.155173RemappedNW_017852933.1
NW_019805500.1Chr16|NW_019805500.122RemappedNW_019805500.1
NT_187661.1Chr17|NT_187661.1141282RemappedNT_187661.1
NT_187662.1Chr17|NT_187662.1109590RemappedNT_187662.1
NT_187663.1Chr17|NT_187663.1173421RemappedNT_187663.1
NT_187664.1Chr17|NT_187664.13398RemappedNT_187664.1
NW_003871093.1Chr17|NW_003871093.181,251RemappedNW_003871093.1
NT_167251.2Chr17|NT_167251.275181RemappedNT_167251.2
NT_187384.1Chr17|NT_187384.167RemappedNT_187384.1
NT_187611.1Chr17|NT_187611.155RemappedNT_187611.1
NT_187612.1Chr17|NT_187612.11315RemappedNT_187612.1
NT_187613.1Chr17|NT_187613.168156RemappedNT_187613.1
NT_187614.1Chr17|NT_187614.1140553RemappedNT_187614.1
NT_187615.1Chr17|NT_187615.111RemappedNT_187615.1
NW_003315952.3Chr17|NW_003315952.3175832RemappedNW_003315952.3
NW_003315953.2Chr17|NW_003315953.213RemappedNW_003315953.2
NW_003315954.1Chr17|NW_003315954.133RemappedNW_003315954.1
NW_003315955.1Chr17|NW_003315955.11724RemappedNW_003315955.1
NW_003871092.1Chr17|NW_003871092.134RemappedNW_003871092.1
NW_016107299.1Chr17|NW_016107299.111RemappedNW_016107299.1
NW_017363817.1Chr17|NW_017363817.139123RemappedNW_017363817.1
NW_017363818.1Chr17|NW_017363818.144RemappedNW_017363818.1
NW_017363819.1Chr17|NW_017363819.12433RemappedNW_017363819.1
NT_187665.1Chr18|NT_187665.11018RemappedNT_187665.1
NT_187666.1Chr18|NT_187666.155168RemappedNT_187666.1
NT_187617.1Chr18|NT_187617.11830RemappedNT_187617.1
NW_003315956.1Chr18|NW_003315956.122RemappedNW_003315956.1
NW_003315957.1Chr18|NW_003315957.133RemappedNW_003315957.1
NW_003315958.1Chr18|NW_003315958.1815RemappedNW_003315958.1
NW_003315959.1Chr18|NW_003315959.135203RemappedNW_003315959.1
NW_003315960.1Chr18|NW_003315960.133RemappedNW_003315960.1
NW_003315961.1Chr18|NW_003315961.155168RemappedNW_003315961.1
NW_013171814.1Chr18|NW_013171814.188RemappedNW_013171814.1
NW_019805502.1Chr18|NW_019805502.111RemappedNW_019805502.1
NW_019805503.1Chr18|NW_019805503.13272RemappedNW_019805503.1
NT_187693.1Chr19|NT_187693.1239658RemappedNT_187693.1
NW_003571061.2Chr19|NW_003571061.276267RemappedNW_003571061.2
NW_003571057.2Chr19|NW_003571057.246218RemappedNW_003571057.2
NW_003571058.2Chr19|NW_003571058.246218RemappedNW_003571058.2
NW_003571059.2Chr19|NW_003571059.246218RemappedNW_003571059.2
NW_003571060.1Chr19|NW_003571060.1128452RemappedNW_003571060.1
NW_003571056.2Chr19|NW_003571056.246218RemappedNW_003571056.2
NW_003571055.2Chr19|NW_003571055.261242RemappedNW_003571055.2
NT_187620.1Chr19|NT_187620.11440RemappedNT_187620.1
NT_187621.1Chr19|NT_187621.141154RemappedNT_187621.1
NT_187622.1Chr19|NT_187622.189RemappedNT_187622.1
NW_003315962.1Chr19|NW_003315962.13251RemappedNW_003315962.1
NW_003315963.1Chr19|NW_003315963.1719RemappedNW_003315963.1
NW_003315964.2Chr19|NW_003315964.233RemappedNW_003315964.2
NW_003315965.1Chr19|NW_003315965.144RemappedNW_003315965.1
NW_003571054.1Chr19|NW_003571054.1144477RemappedNW_003571054.1
NW_009646206.1Chr19|NW_009646206.114129RemappedNW_009646206.1
NT_187623.1Chr20|NT_187623.133RemappedNT_187623.1
NT_187624.1Chr20|NT_187624.155185RemappedNT_187624.1
NW_003315966.2Chr20|NW_003315966.211RemappedNW_003315966.2
NT_187626.1Chr21|NT_187626.11321RemappedNT_187626.1
NT_187628.1Chr21|NT_187628.111RemappedNT_187628.1
NW_003315967.2Chr21|NW_003315967.211RemappedNW_003315967.2
NW_003315968.2Chr21|NW_003315968.230254RemappedNW_003315968.2
NW_003315970.2Chr21|NW_003315970.233RemappedNW_003315970.2
NW_015148969.1Chr22|NW_015148969.13354RemappedNW_015148969.1
NT_187393.1Chr22|NT_187393.111RemappedNT_187393.1
NT_187629.1Chr22|NT_187629.183250RemappedNT_187629.1
NT_187631.1Chr22|NT_187631.111RemappedNT_187631.1
NT_187632.1Chr22|NT_187632.166RemappedNT_187632.1
NT_187633.1Chr22|NT_187633.1991,515RemappedNT_187633.1
NW_003315972.2Chr22|NW_003315972.210309RemappedNW_003315972.2
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr15,69134,614RemappedNC_000001.10
NC_000002.11Chr25,52535,214RemappedNC_000002.11
NC_000003.11Chr34,60331,442RemappedNC_000003.11
NC_000004.11Chr44,01535,125RemappedNC_000004.11
NC_000005.9Chr54,62427,617RemappedNC_000005.9
NC_000006.11Chr65,40532,226RemappedNC_000006.11
NC_000007.13Chr74,48925,879RemappedNC_000007.13
NC_000008.10Chr84,08025,086RemappedNC_000008.10
NC_000009.11Chr93,61423,810RemappedNC_000009.11
NC_000010.10Chr103,49624,383RemappedNC_000010.10
NC_000011.9Chr114,51924,545RemappedNC_000011.9
NC_000012.11Chr124,67721,203RemappedNC_000012.11
NC_000013.10Chr132,66715,783RemappedNC_000013.10
NC_000014.8Chr143,86116,400RemappedNC_000014.8
NC_000015.9Chr154,08915,507RemappedNC_000015.9
NC_000016.9Chr163,44614,032RemappedNC_000016.9
NC_000017.10Chr172,55513,288RemappedNC_000017.10
NC_000018.9Chr182,04613,593RemappedNC_000018.9
NC_000019.9Chr192,57712,163RemappedNC_000019.9
NC_000020.10Chr201,94510,039RemappedNC_000020.10
NC_000021.8Chr211,2815,014RemappedNC_000021.8
NC_000022.10Chr221,5969,753RemappedNC_000022.10
NW_003315903.1Chr1|NW_003315903.144RemappedNW_003315903.1
NW_003315904.1Chr1|NW_003315904.111RemappedNW_003315904.1
NW_003315905.1Chr1|NW_003315905.166RemappedNW_003315905.1
NW_003315907.1Chr1|NW_003315907.1914RemappedNW_003315907.1
NW_003871055.3Chr1|NW_003871055.3208466RemappedNW_003871055.3
NW_003871056.3Chr1|NW_003871056.31633RemappedNW_003871056.3
NW_003871057.1Chr1|NW_003871057.12540RemappedNW_003871057.1
NW_003315908.1Chr2|NW_003315908.133RemappedNW_003315908.1
NW_003315909.1Chr2|NW_003315909.122RemappedNW_003315909.1
NW_004504299.1Chr2|NW_004504299.115105RemappedNW_004504299.1
NW_003315910.1Chr3|NW_003315910.111RemappedNW_003315910.1
NW_003871058.1Chr3|NW_003871058.156RemappedNW_003871058.1
NW_003871059.1Chr3|NW_003871059.155RemappedNW_003871059.1
NT_167250.1Chr4|NT_167250.144RemappedNT_167250.1
NW_003315915.1Chr4|NW_003315915.122373RemappedNW_003315915.1
NW_003571034.1Chr4|NW_003571034.133RemappedNW_003571034.1
NW_003571035.1Chr4|NW_003571035.111RemappedNW_003571035.1
NW_004775427.1Chr4|NW_004775427.157132RemappedNW_004775427.1
NW_003315917.2Chr5|NW_003315917.233RemappedNW_003315917.2
NW_003315920.1Chr5|NW_003315920.167RemappedNW_003315920.1
NW_003571036.1Chr5|NW_003571036.134RemappedNW_003571036.1
NW_004775428.1Chr5|NW_004775428.194330RemappedNW_004775428.1
NT_113891.2Chr6|NT_113891.211RemappedNT_113891.2
NT_167244.1Chr6|NT_167244.14565RemappedNT_167244.1
NT_167245.1Chr6|NT_167245.1291917RemappedNT_167245.1
NT_167246.1Chr6|NT_167246.18563,198RemappedNT_167246.1
NT_167247.1Chr6|NT_167247.1313750RemappedNT_167247.1
NT_167249.1Chr6|NT_167249.17892,307RemappedNT_167249.1
NW_004070866.1Chr6|NW_004070866.11795RemappedNW_004070866.1
NW_004166862.1Chr6|NW_004166862.133RemappedNW_004166862.1
NW_004504300.1Chr6|NW_004504300.11417RemappedNW_004504300.1
NW_003571037.1Chr7|NW_003571037.11391RemappedNW_003571037.1
NW_003571038.1Chr7|NW_003571038.13159RemappedNW_003571038.1
NW_003571039.1Chr7|NW_003571039.111RemappedNW_003571039.1
NW_003571040.1Chr7|NW_003571040.11782,135RemappedNW_003571040.1
NW_003571041.1Chr7|NW_003571041.111RemappedNW_003571041.1
NW_003871064.1Chr7|NW_003871064.11171,144RemappedNW_003871064.1
NW_003871065.1Chr7|NW_003871065.1617RemappedNW_003871065.1
NW_004775430.1Chr7|NW_004775430.1410RemappedNW_004775430.1
NW_003315923.1Chr8|NW_003315923.12440RemappedNW_003315923.1
NW_003315924.1Chr8|NW_003315924.11724RemappedNW_003315924.1
NW_003571042.1Chr8|NW_003571042.1166508RemappedNW_003571042.1
NW_003871066.2Chr8|NW_003871066.211RemappedNW_003871066.2
NW_004775431.1Chr8|NW_004775431.111RemappedNW_004775431.1
NW_003315925.1Chr9|NW_003315925.12448RemappedNW_003315925.1
NW_003315928.1Chr9|NW_003315928.122RemappedNW_003315928.1
NW_003315930.1Chr9|NW_003315930.11667RemappedNW_003315930.1
NW_003315931.1Chr9|NW_003315931.1629RemappedNW_003315931.1
NW_003871067.1Chr9|NW_003871067.114RemappedNW_003871067.1
NW_004070868.1Chr9|NW_004070868.12132RemappedNW_004070868.1
NW_004070869.1Chr9|NW_004070869.12478RemappedNW_004070869.1
NW_004504301.1Chr9|NW_004504301.111RemappedNW_004504301.1
NW_003315933.1Chr10|NW_003315933.111RemappedNW_003315933.1
NW_003315934.1Chr10|NW_003315934.14168RemappedNW_003315934.1
NW_003315935.1Chr10|NW_003315935.111RemappedNW_003315935.1
NW_003571043.1Chr10|NW_003571043.148RemappedNW_003571043.1
NW_003871068.1Chr10|NW_003871068.1102577RemappedNW_003871068.1
NW_003871071.1Chr10|NW_003871071.11730RemappedNW_003871071.1
NW_004775432.1Chr10|NW_004775432.189RemappedNW_004775432.1
NW_003315936.1Chr11|NW_003315936.1812RemappedNW_003315936.1
NW_003571045.1Chr11|NW_003571045.144RemappedNW_003571045.1
NW_003571046.1Chr11|NW_003571046.111RemappedNW_003571046.1
NW_003871072.2Chr11|NW_003871072.211RemappedNW_003871072.2
NW_003871074.1Chr11|NW_003871074.111RemappedNW_003871074.1
NW_003871075.1Chr11|NW_003871075.1512RemappedNW_003871075.1
NW_003871077.1Chr11|NW_003871077.11371RemappedNW_003871077.1
NW_003871078.1Chr11|NW_003871078.122RemappedNW_003871078.1
NW_003871081.1Chr11|NW_003871081.133RemappedNW_003871081.1
NW_003871082.1Chr11|NW_003871082.111RemappedNW_003871082.1
NW_004070871.1Chr11|NW_004070871.156RemappedNW_004070871.1
NW_003315937.1Chr12|NW_003315937.141110RemappedNW_003315937.1
NW_003315938.1Chr12|NW_003315938.111RemappedNW_003315938.1
NW_003315939.1Chr12|NW_003315939.111RemappedNW_003315939.1
NW_003315941.1Chr12|NW_003315941.123RemappedNW_003315941.1
NW_003571048.1Chr12|NW_003571048.11719RemappedNW_003571048.1
NW_003571050.1Chr12|NW_003571050.129216RemappedNW_003571050.1
NW_003871083.2Chr12|NW_003871083.289RemappedNW_003871083.2
NW_004504303.2Chr12|NW_004504303.233RemappedNW_004504303.2
NW_004166863.1Chr14|NW_004166863.17631,678RemappedNW_004166863.1
NW_003315943.1Chr15|NW_003315943.1710RemappedNW_003315943.1
NW_003315944.1Chr15|NW_003315944.111RemappedNW_003315944.1
NW_003871084.1Chr15|NW_003871084.1181,006RemappedNW_003871084.1
NW_003315945.1Chr16|NW_003315945.144RemappedNW_003315945.1
NT_167251.1Chr17|NT_167251.149153RemappedNT_167251.1
NW_003315948.2Chr17|NW_003315948.278RemappedNW_003315948.2
NW_003315949.1Chr17|NW_003315949.169159RemappedNW_003315949.1
NW_003315950.2Chr17|NW_003315950.21947RemappedNW_003315950.2
NW_003315953.1Chr17|NW_003315953.113RemappedNW_003315953.1
NW_003315954.1Chr17|NW_003315954.133RemappedNW_003315954.1
NW_003315955.1Chr17|NW_003315955.11724RemappedNW_003315955.1
NW_003571052.1Chr17|NW_003571052.111RemappedNW_003571052.1
NW_003871086.1Chr17|NW_003871086.191222RemappedNW_003871086.1
NW_003871087.1Chr17|NW_003871087.199RemappedNW_003871087.1
NW_003871088.1Chr17|NW_003871088.11113RemappedNW_003871088.1
NW_003871090.1Chr17|NW_003871090.110512RemappedNW_003871090.1
NW_003871092.1Chr17|NW_003871092.111RemappedNW_003871092.1
NW_003871093.1Chr17|NW_003871093.161,248RemappedNW_003871093.1
NW_004070872.2Chr17|NW_004070872.2204926RemappedNW_004070872.2
NW_004775433.1Chr17|NW_004775433.144RemappedNW_004775433.1
NW_003315956.1Chr18|NW_003315956.122RemappedNW_003315956.1
NW_003315957.1Chr18|NW_003315957.133RemappedNW_003315957.1
NW_003315958.1Chr18|NW_003315958.1815RemappedNW_003315958.1
NW_003315959.1Chr18|NW_003315959.135203RemappedNW_003315959.1
NW_003315960.1Chr18|NW_003315960.133RemappedNW_003315960.1
NW_003315961.1Chr18|NW_003315961.13689RemappedNW_003315961.1
NW_003315962.1Chr19|NW_003315962.13251RemappedNW_003315962.1
NW_003315963.1Chr19|NW_003315963.1719RemappedNW_003315963.1
NW_003315964.2Chr19|NW_003315964.233RemappedNW_003315964.2
NW_003315965.1Chr19|NW_003315965.144RemappedNW_003315965.1
NW_003571053.2Chr19|NW_003571053.2125500RemappedNW_003571053.2
NW_003571054.1Chr19|NW_003571054.111RemappedNW_003571054.1
NW_003571055.1Chr19|NW_003571055.111RemappedNW_003571055.1
NW_003571056.1Chr19|NW_003571056.111RemappedNW_003571056.1
NW_003571057.1Chr19|NW_003571057.111RemappedNW_003571057.1
NW_003571058.1Chr19|NW_003571058.111RemappedNW_003571058.1
NW_003571059.1Chr19|NW_003571059.111RemappedNW_003571059.1
NW_003571061.1Chr19|NW_003571061.122RemappedNW_003571061.1
NW_003871094.1Chr19|NW_003871094.11326RemappedNW_003871094.1
NW_004166865.1Chr19|NW_004166865.1139397RemappedNW_004166865.1
NW_004775434.1Chr19|NW_004775434.12675RemappedNW_004775434.1
NW_003315966.1Chr20|NW_003315966.111RemappedNW_003315966.1
NW_003571063.2Chr20|NW_003571063.257RemappedNW_003571063.2
NW_004504304.1Chr20|NW_004504304.122RemappedNW_004504304.1
NW_003315967.1Chr21|NW_003315967.111RemappedNW_003315967.1
NW_003315968.1Chr21|NW_003315968.130254RemappedNW_003315968.1
NW_003315970.1Chr21|NW_003315970.133RemappedNW_003315970.1
NW_004775435.1Chr21|NW_004775435.11414RemappedNW_004775435.1
NW_003315972.1Chr22|NW_003315972.110309RemappedNW_003315972.1
NW_003871096.1Chr22|NW_003871096.133RemappedNW_003871096.1
NW_004070874.1Chr22|NW_004070874.111RemappedNW_004070874.1
NW_004070875.1Chr22|NW_004070875.14358RemappedNW_004070875.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr15,69134,614SubmittedNC_000001.9
NC_000002.10Chr25,52535,214SubmittedNC_000002.10
NC_000003.10Chr34,60331,442SubmittedNC_000003.10
NC_000004.10Chr44,03535,200SubmittedNC_000004.10
NC_000005.8Chr54,62427,617SubmittedNC_000005.8
NC_000006.10Chr65,40532,226SubmittedNC_000006.10
NC_000007.12Chr74,54526,517SubmittedNC_000007.12
NC_000008.9Chr84,08725,106SubmittedNC_000008.9
NC_000009.10Chr93,61523,811SubmittedNC_000009.10
NC_000010.9Chr103,49624,383SubmittedNC_000010.9
NC_000011.8Chr114,52124,547SubmittedNC_000011.8
NC_000012.10Chr124,69421,222SubmittedNC_000012.10
NC_000013.9Chr132,66715,783SubmittedNC_000013.9
NC_000014.7Chr143,86116,400SubmittedNC_000014.7
NC_000015.8Chr154,14315,570SubmittedNC_000015.8
NC_000016.8Chr163,44514,031SubmittedNC_000016.8
NC_000017.9Chr172,80214,265SubmittedNC_000017.9
NC_000018.8Chr182,04613,593SubmittedNC_000018.8
NC_000019.8Chr192,71712,561SubmittedNC_000019.8
NC_000020.9Chr201,94610,040SubmittedNC_000020.9
NC_000021.7Chr211,2815,014SubmittedNC_000021.7
NC_000022.9Chr221,5969,753SubmittedNC_000022.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr15,6915,3297238025234,61433,92275720545
NC_000002.10Chr25,5255,405791902235,21434,99385230113
NC_000003.10Chr34,6034,529511001331,44231,3447410014
NC_000004.10Chr44,0353,843991277435,20034,6081191311449
NC_000005.8Chr54,6244,4643321010627,61727,19337430344
NC_000006.10Chr65,4054,03255701,31132,22627,67661704,482
NC_000007.12Chr74,5454,02917831030726,51722,8218174602,833
NC_000008.9Chr84,0873,7747932020225,10624,42791340554
NC_000009.10Chr93,6153,42885619523,81123,4449781261
NC_000010.9Chr103,4963,1896733020724,38323,50294490738
NC_000011.8Chr114,5214,446171604224,54724,39819180112
NC_000012.10Chr124,6944,545382608521,22220,81338280343
NC_000013.9Chr132,6672,6392440015,78315,75326400
NC_000014.7Chr143,8613,052415076316,40014,65661501,678
NC_000015.8Chr154,1433,749129181543015,57013,947317222631,021
NC_000016.8Chr163,4453,4053140514,03113,978341405
NC_000017.9Chr172,8022,134302114424814,26511,06766518042,349
NC_000018.8Chr182,0461,90750208713,59313,2185820315
NC_000019.8Chr192,7172,429689021112,56111,76999140679
NC_000020.9Chr201,9461,8973371810,0409,965577110
NC_000021.7Chr211,2811,1992860485,0144,6924460272
NC_000022.9Chr221,5961,47480180249,7539,196205250327
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr15,6914,83944668533334,61430,895855134142,716
NC_000002.10Chr25,5254,67526036055435,21433,1724585601,528
NC_000003.10Chr34,6034,31712116214731,44230,783168293459
NC_000004.10Chr44,0353,7331881878935,20034,3873232111458
NC_000005.8Chr54,6244,1388021038527,61726,321954301,158
NC_000006.10Chr65,4053,8991133751,35132,22627,6071226454,428
NC_000007.12Chr74,5453,822304315833026,51722,7591,0641314782,085
NC_000008.9Chr84,0873,113130701575925,10622,6011411132571,994
NC_000009.10Chr93,6153,36415420156223,81123,3212574726160
NC_000010.9Chr103,4963,137150512213624,38323,36220016850603
NC_000011.8Chr114,5214,11512520925224,54723,4272293718836
NC_000012.10Chr124,6944,340417829821,22219,967417101,197
NC_000013.9Chr132,6672,4943726210815,78315,37439312337
NC_000014.7Chr143,8612,670432591768316,40012,467740971,1991,897
NC_000015.8Chr154,1433,470149225529415,57014,2142752838790
NC_000016.8Chr163,4453,1475920021914,03113,08292640793
NC_000017.9Chr172,8021,79131466262914,26510,41565310623,089
NC_000018.8Chr182,0461,7907314216713,59312,94776602508
NC_000019.8Chr192,7172,33510314026512,56111,481170270883
NC_000020.9Chr201,9461,778103335910,0409,69614933189
NC_000021.7Chr211,2811,09512860525,0144,57015460284
NC_000022.9Chr221,59697736841131979,7535,8975421821,6531,479

Samplesets

Number of Samplesets: 12

Sampleset ID:
1
Sampleset Type:
Case
Description:
Children referred to Signature Genomics with a general diagnosis of intellectual disability (ID) and/or developmental delay (DD).
Size:
15,767
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Developmental Disabilities
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 15767 samples)
    Sample IDSubject ID Subject Phenotype
    98810969881096Developmental Disabilities
    Global developmental delay
    98811019881101Autism
    Developmental Disabilities
    Global developmental delay
    98811139881113Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98811229881122Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98811249881124Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    98811499881149Autism
    Developmental Disabilities
    Global developmental delay
    98811529881152Developmental Disabilities
    Global developmental delay
    98811539881153Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98811549881154Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98811559881155Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98811589881158Abnormality of the cardiovascular system
    Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98811599881159Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98811629881162Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98811659881165Autism
    Developmental Disabilities
    Global developmental delay
    98811669881166Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98811679881167Developmental Disabilities
    Global developmental delay
    98811709881170Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98811759881175Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812009881200Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812039881203Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812099881209Developmental Disabilities
    Global developmental delay
    98812149881214Autism
    Developmental Disabilities
    Global developmental delay
    98812159881215Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812179881217Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812189881218Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812209881220Developmental Disabilities
    Global developmental delay
    98812219881221Autism
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98812419881241Autism
    Developmental Disabilities
    Global developmental delay
    98812439881243Autism
    Developmental Disabilities
    Global developmental delay
    98812489881248Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98812509881250Abnormality of the nervous system
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Multiple congenital abnormalities
    Seizures
    98812529881252Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812539881253Developmental Disabilities
    Global developmental delay
    98812599881259Abnormality of the nervous system
    Autism
    Developmental Disabilities
    Global developmental delay
    98812689881268Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    98812709881270Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812719881271Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98812729881272Developmental Disabilities
    Global developmental delay
    98812759881275Abnormality of the nervous system
    Autism
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98812829881282Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812839881283Developmental Disabilities
    Global developmental delay
    98812859881285Abnormal facial shape
    Abnormality of the nervous system
    Autism
    Developmental Disabilities
    Global developmental delay
    98812869881286Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812889881288Abnormality of the nervous system
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Multiple congenital abnormalities
    Seizures
    98812899881289Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812909881290Developmental Disabilities
    Global developmental delay
    98812929881292Abnormal facial shape
    Abnormality of the cardiovascular system
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98812969881296Developmental Disabilities
    Global developmental delay
    98812979881297Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98812999881299Developmental Disabilities
    Global developmental delay
    98813009881300Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813019881301Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813039881303Abnormality of the nervous system
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98813049881304Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813059881305Abnormality of the nervous system
    Autism
    Developmental Disabilities
    Global developmental delay
    98813079881307Abnormality of the nervous system
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98813129881312Developmental Disabilities
    Global developmental delay
    98813139881313Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813179881317Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98813189881318Abnormality of the cardiovascular system
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813199881319Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813209881320Developmental Disabilities
    Global developmental delay
    98813279881327Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813289881328Abnormality of the nervous system
    Autism
    Developmental Disabilities
    Global developmental delay
    98813299881329Developmental Disabilities
    Global developmental delay
    98813309881330Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813319881331Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813329881332Developmental Disabilities
    Global developmental delay
    98813339881333Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813349881334Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98813359881335Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813369881336Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813379881337Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813399881339Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    98813409881340Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813429881342Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813449881344Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813519881351Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813529881352Abnormality of the nervous system
    Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98813539881353Abnormality of the cardiovascular system
    Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98813589881358Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813599881359Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813619881361Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813639881363Developmental Disabilities
    Global developmental delay
    98813649881364Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813669881366Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98813679881367Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98813709881370Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813719881371Abnormal facial shape
    Abnormality of the nervous system
    Developmental Disabilities
    Failure to thrive
    Global developmental delay
    98813729881372Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813759881375Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813769881376Developmental Disabilities
    Global developmental delay
    98813789881378Abnormality of the cardiovascular system
    Developmental Disabilities
    Global developmental delay
    98813799881379Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813809881380Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813819881381Abnormal facial shape
    Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    98813829881382Abnormality of the nervous system
    Developmental Disabilities
    Global developmental delay
    98813849881384Autism
    Developmental Disabilities
    Global developmental delay
    98813859881385Abnormality of the nervous system
    Developmental Disabilities
    Generalized seizures
    Global developmental delay
    Seizures
    98813869881386Developmental Disabilities
    Global developmental delay
    Multiple congenital abnormalities
    Sampleset ID:
    2
    Name:
    HGDP
    Sampleset Type:
    Control
    Description:
    The HGDP consists of 1064 individuals sampled from 51 different world populations. N=984 after sample quality control. Illumina 650Y data from PMID:18292342
    Size:
    986
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
  • Download Samples as CSV file
  • Samples for sampleset 2 (displaying 100 of the 986 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    HGDP00080HGDP00080MaleBalochiNot reported
    HGDP00074HGDP00074MaleBalochiNot reported
    HGDP00108HGDP00108MaleHazaraNot reported
    HGDP00169HGDP00169MaleSindhiNot reported
    HGDP00144HGDP00144MaleMakraniNot reported
    HGDP00064HGDP00064MaleBalochiNot reported
    HGDP00146HGDP00146MaleMakraniNot reported
    HGDP00099HGDP00099MaleHazaraNot reported
    HGDP00160HGDP00160MaleMakraniNot reported
    HGDP00157HGDP00157FemaleMakraniNot reported
    HGDP00027HGDP00027MaleBrahuiNot reported
    HGDP00031HGDP00031MaleBrahuiNot reported
    HGDP00092HGDP00092MaleBalochiNot reported
    HGDP00019HGDP00019MaleBrahuiNot reported
    HGDP00124HGDP00124MaleHazaraNot reported
    HGDP00021HGDP00021MaleBrahuiNot reported
    HGDP00158HGDP00158MaleMakraniNot reported
    HGDP00135HGDP00135MaleMakraniNot reported
    HGDP00125HGDP00125MaleHazaraNot reported
    HGDP00005HGDP00005MaleBrahuiNot reported
    HGDP00054HGDP00054MaleBalochiNot reported
    HGDP00049HGDP00049MaleBrahuiNot reported
    HGDP00116HGDP00116MaleHazaraNot reported
    HGDP00052HGDP00052MaleBalochiNot reported
    HGDP00167HGDP00167MaleSindhiNot reported
    HGDP00131HGDP00131MaleMakraniNot reported
    HGDP00082HGDP00082MaleBalochiNot reported
    HGDP00161HGDP00161MaleMakraniNot reported
    HGDP00029HGDP00029MaleBrahuiNot reported
    HGDP00127HGDP00127MaleHazaraNot reported
    HGDP00009HGDP00009MaleBrahuiNot reported
    HGDP00110HGDP00110MaleHazaraNot reported
    HGDP00045HGDP00045MaleBrahuiNot reported
    HGDP00106HGDP00106MaleHazaraNot reported
    HGDP00122HGDP00122MaleHazaraNot reported
    HGDP00150HGDP00150MaleMakraniNot reported
    HGDP00121HGDP00121MaleHazaraNot reported
    HGDP00118HGDP00118MaleHazaraNot reported
    HGDP00070HGDP00070MaleBalochiNot reported
    HGDP00139HGDP00139MaleMakraniNot reported
    HGDP00041HGDP00041MaleBrahuiNot reported
    HGDP00151HGDP00151FemaleMakraniNot reported
    HGDP00011HGDP00011MaleBrahuiNot reported
    HGDP00086HGDP00086MaleBalochiNot reported
    HGDP00102HGDP00102MaleHazaraNot reported
    HGDP00003HGDP00003MaleBrahuiNot reported
    HGDP00163HGDP00163MaleSindhiNot reported
    HGDP00141HGDP00141MaleMakraniNot reported
    HGDP00076HGDP00076MaleBalochiNot reported
    HGDP00154HGDP00154FemaleMakraniNot reported
    HGDP00148HGDP00148MaleMakraniNot reported
    HGDP00047HGDP00047MaleBrahuiNot reported
    HGDP00001HGDP00001MaleBrahuiNot reported
    HGDP00165HGDP00165MaleSindhiNot reported
    HGDP00134HGDP00134MaleMakraniNot reported
    HGDP00133HGDP00133MaleMakraniNot reported
    HGDP00155HGDP00155FemaleMakraniNot reported
    HGDP00025HGDP00025MaleBrahuiNot reported
    HGDP00120HGDP00120MaleHazaraNot reported
    HGDP00090HGDP00090MaleBalochiNot reported
    HGDP00058HGDP00058MaleBalochiNot reported
    HGDP00113HGDP00113MaleHazaraNot reported
    HGDP00066HGDP00066MaleBalochiNot reported
    HGDP00137HGDP00137MaleMakraniNot reported
    HGDP00105HGDP00105MaleHazaraNot reported
    HGDP00057HGDP00057MaleBalochiNot reported
    HGDP00094HGDP00094MaleBalochiNot reported
    HGDP00068HGDP00068MaleBalochiNot reported
    HGDP00129HGDP00129MaleHazaraNot reported
    HGDP00007HGDP00007MaleBrahuiNot reported
    HGDP00098HGDP00098MaleBalochiNot reported
    HGDP00109HGDP00109MaleHazaraNot reported
    HGDP00078HGDP00078MaleBalochiNot reported
    HGDP00039HGDP00039MaleBrahuiNot reported
    HGDP00143HGDP00143MaleMakraniNot reported
    HGDP00130HGDP00130MaleMakraniNot reported
    HGDP00140HGDP00140MaleMakraniNot reported
    HGDP00023HGDP00023MaleBrahuiNot reported
    HGDP00062HGDP00062MaleBalochiNot reported
    HGDP00056HGDP00056MaleBalochiNot reported
    HGDP00100HGDP00100MaleHazaraNot reported
    HGDP00136HGDP00136MaleMakraniNot reported
    HGDP00088HGDP00088MaleBalochiNot reported
    HGDP00033HGDP00033MaleBrahuiNot reported
    HGDP00017HGDP00017MaleBrahuiNot reported
    HGDP00096HGDP00096MaleBalochiNot reported
    HGDP00035HGDP00035MaleBrahuiNot reported
    HGDP00060HGDP00060MaleBalochiNot reported
    HGDP00149HGDP00149MaleMakraniNot reported
    HGDP00112HGDP00112MaleHazaraNot reported
    HGDP00103HGDP00103MaleHazaraNot reported
    HGDP00104HGDP00104MaleHazaraNot reported
    HGDP00072HGDP00072MaleBalochiNot reported
    HGDP00037HGDP00037MaleBrahuiNot reported
    HGDP00153HGDP00153FemaleMakraniNot reported
    HGDP00084HGDP00084MaleBalochiNot reported
    HGDP00013HGDP00013MaleBrahuiNot reported
    HGDP00145HGDP00145MaleMakraniNot reported
    HGDP00015HGDP00015MaleBrahuiNot reported
    HGDP00043HGDP00043MaleBrahuiNot reported
    Sampleset ID:
    3
    Name:
    NINDS-317+240K
    Sampleset Type:
    Control
    Description:
    Genotype data from NINDS were derived from two sets of neurological disease controls totaling 790 people and consist of individuals of European descent with no family history of or any first-degree relative with amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia, Parkinson disease, or schizophrenia. Illumina317K+240K Data. dbGAP Accession: phs000089
    Size:
    226
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
  • Download Samples as CSV file
  • Samples for sampleset 3 (displaying 100 of the 226 samples)
    Sample IDCell TypeSubject ID EthnicitySubject Phenotype
    NINDS_169B-lymphocyteNINDS_169CaucasianNot reported
    NINDS_119B-lymphocyteNINDS_119CaucasianNot reported
    NINDS_173B-lymphocyteNINDS_173CaucasianNot reported
    NINDS_17B-lymphocyteNINDS_17CaucasianNot reported
    NINDS_165B-lymphocyteNINDS_165CaucasianNot reported
    NINDS_206B-lymphocyteNINDS_206CaucasianNot reported
    NINDS_194B-lymphocyteNINDS_194CaucasianNot reported
    NINDS_166B-lymphocyteNINDS_166CaucasianNot reported
    NINDS_133B-lymphocyteNINDS_133CaucasianNot reported
    NINDS_179B-lymphocyteNINDS_179CaucasianNot reported
    NINDS_167B-lymphocyteNINDS_167CaucasianNot reported
    NINDS_123B-lymphocyteNINDS_123CaucasianNot reported
    NINDS_159B-lymphocyteNINDS_159CaucasianNot reported
    NINDS_106B-lymphocyteNINDS_106CaucasianNot reported
    NINDS_124B-lymphocyteNINDS_124CaucasianNot reported
    NINDS_158B-lymphocyteNINDS_158CaucasianNot reported
    NINDS_200B-lymphocyteNINDS_200CaucasianNot reported
    NINDS_2B-lymphocyteNINDS_2CaucasianNot reported
    NINDS_198B-lymphocyteNINDS_198CaucasianNot reported
    NINDS_105B-lymphocyteNINDS_105CaucasianNot reported
    NINDS_131B-lymphocyteNINDS_131CaucasianNot reported
    NINDS_104B-lymphocyteNINDS_104CaucasianNot reported
    NINDS_193B-lymphocyteNINDS_193CaucasianNot reported
    NINDS_163B-lymphocyteNINDS_163CaucasianNot reported
    NINDS_186B-lymphocyteNINDS_186CaucasianNot reported
    NINDS_130B-lymphocyteNINDS_130CaucasianNot reported
    NINDS_118B-lymphocyteNINDS_118CaucasianNot reported
    NINDS_210B-lymphocyteNINDS_210CaucasianNot reported
    NINDS_160B-lymphocyteNINDS_160CaucasianNot reported
    NINDS_152B-lymphocyteNINDS_152CaucasianNot reported
    NINDS_155B-lymphocyteNINDS_155CaucasianNot reported
    NINDS_100B-lymphocyteNINDS_100CaucasianNot reported
    NINDS_174B-lymphocyteNINDS_174CaucasianNot reported
    NINDS_195B-lymphocyteNINDS_195CaucasianNot reported
    NINDS_156B-lymphocyteNINDS_156CaucasianNot reported
    NINDS_127B-lymphocyteNINDS_127CaucasianNot reported
    NINDS_120B-lymphocyteNINDS_120CaucasianNot reported
    NINDS_109B-lymphocyteNINDS_109CaucasianNot reported
    NINDS_129B-lymphocyteNINDS_129CaucasianNot reported
    NINDS_208B-lymphocyteNINDS_208CaucasianNot reported
    NINDS_19B-lymphocyteNINDS_19CaucasianNot reported
    NINDS_182B-lymphocyteNINDS_182CaucasianNot reported
    NINDS_178B-lymphocyteNINDS_178CaucasianNot reported
    NINDS_132B-lymphocyteNINDS_132CaucasianNot reported
    NINDS_110B-lymphocyteNINDS_110CaucasianNot reported
    NINDS_204B-lymphocyteNINDS_204CaucasianNot reported
    NINDS_111B-lymphocyteNINDS_111CaucasianNot reported
    NINDS_180B-lymphocyteNINDS_180CaucasianNot reported
    NINDS_14B-lymphocyteNINDS_14CaucasianNot reported
    NINDS_151B-lymphocyteNINDS_151CaucasianNot reported
    NINDS_211B-lymphocyteNINDS_211CaucasianNot reported
    NINDS_21B-lymphocyteNINDS_21CaucasianNot reported
    NINDS_192B-lymphocyteNINDS_192CaucasianNot reported
    NINDS_171B-lymphocyteNINDS_171CaucasianNot reported
    NINDS_201B-lymphocyteNINDS_201CaucasianNot reported
    NINDS_13B-lymphocyteNINDS_13CaucasianNot reported
    NINDS_196B-lymphocyteNINDS_196CaucasianNot reported
    NINDS_101B-lymphocyteNINDS_101CaucasianNot reported
    NINDS_209B-lymphocyteNINDS_209CaucasianNot reported
    NINDS_207B-lymphocyteNINDS_207CaucasianNot reported
    NINDS_184B-lymphocyteNINDS_184CaucasianNot reported
    NINDS_162B-lymphocyteNINDS_162CaucasianNot reported
    NINDS_12B-lymphocyteNINDS_12CaucasianNot reported
    NINDS_136B-lymphocyteNINDS_136CaucasianNot reported
    NINDS_181B-lymphocyteNINDS_181CaucasianNot reported
    NINDS_170B-lymphocyteNINDS_170CaucasianNot reported
    NINDS_139B-lymphocyteNINDS_139CaucasianNot reported
    NINDS_205B-lymphocyteNINDS_205CaucasianNot reported
    NINDS_103B-lymphocyteNINDS_103CaucasianNot reported
    NINDS_149B-lymphocyteNINDS_149CaucasianNot reported
    NINDS_172B-lymphocyteNINDS_172CaucasianNot reported
    NINDS_16B-lymphocyteNINDS_16CaucasianNot reported
    NINDS_146B-lymphocyteNINDS_146CaucasianNot reported
    NINDS_117B-lymphocyteNINDS_117CaucasianNot reported
    NINDS_203B-lymphocyteNINDS_203CaucasianNot reported
    NINDS_191B-lymphocyteNINDS_191CaucasianNot reported
    NINDS_183B-lymphocyteNINDS_183CaucasianNot reported
    NINDS_15B-lymphocyteNINDS_15CaucasianNot reported
    NINDS_190B-lymphocyteNINDS_190CaucasianNot reported
    NINDS_135B-lymphocyteNINDS_135CaucasianNot reported
    NINDS_145B-lymphocyteNINDS_145CaucasianNot reported
    NINDS_168B-lymphocyteNINDS_168CaucasianNot reported
    NINDS_112B-lymphocyteNINDS_112CaucasianNot reported
    NINDS_199B-lymphocyteNINDS_199CaucasianNot reported
    NINDS_125B-lymphocyteNINDS_125CaucasianNot reported
    NINDS_18B-lymphocyteNINDS_18CaucasianNot reported
    NINDS_114B-lymphocyteNINDS_114CaucasianNot reported
    NINDS_113B-lymphocyteNINDS_113CaucasianNot reported
    NINDS_115B-lymphocyteNINDS_115CaucasianNot reported
    NINDS_10B-lymphocyteNINDS_10CaucasianNot reported
    NINDS_212B-lymphocyteNINDS_212CaucasianNot reported
    NINDS_142B-lymphocyteNINDS_142CaucasianNot reported
    NINDS_197B-lymphocyteNINDS_197CaucasianNot reported
    NINDS_134B-lymphocyteNINDS_134CaucasianNot reported
    NINDS_202B-lymphocyteNINDS_202CaucasianNot reported
    NINDS_116B-lymphocyteNINDS_116CaucasianNot reported
    NINDS_20B-lymphocyteNINDS_20CaucasianNot reported
    NINDS_189B-lymphocyteNINDS_189CaucasianNot reported
    NINDS_147B-lymphocyteNINDS_147CaucasianNot reported
    NINDS_102B-lymphocyteNINDS_102CaucasianNot reported
    Sampleset ID:
    4
    Name:
    NINDS-550K
    Sampleset Type:
    Control
    Description:
    Genotype data from NINDS were derived from two sets of neurological disease controls totaling 790 people and consist of individuals of European descent with no family history of or any first-degree relative with amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia, Parkinson disease, or schizophrenia. Illumina 550K Data. dbGAP Accession: phs000089
    Size:
    441
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
  • Download Samples as CSV file
  • Samples for sampleset 4 (displaying 100 of the 441 samples)
    Sample IDCell TypeSubject ID EthnicitySubject Phenotype
    1780854105_AB-lymphocyte1780854105_ACaucasianNot reported
    1780854341_AB-lymphocyte1780854341_ACaucasianNot reported
    1780854382_AB-lymphocyte1780854382_ACaucasianNot reported
    1780854337_AB-lymphocyte1780854337_ACaucasianNot reported
    1780854202_AB-lymphocyte1780854202_ACaucasianNot reported
    1780854017_AB-lymphocyte1780854017_ACaucasianNot reported
    1780854326_AB-lymphocyte1780854326_ACaucasianNot reported
    1780854184_AB-lymphocyte1780854184_ACaucasianNot reported
    1780854159_AB-lymphocyte1780854159_ACaucasianNot reported
    1780854097_AB-lymphocyte1780854097_ACaucasianNot reported
    1780854401_AB-lymphocyte1780854401_ACaucasianNot reported
    1780854392_AB-lymphocyte1780854392_ACaucasianNot reported
    1780854327_AB-lymphocyte1780854327_ACaucasianNot reported
    1780854416_AB-lymphocyte1780854416_ACaucasianNot reported
    1780854391_AB-lymphocyte1780854391_ACaucasianNot reported
    1780854090_AB-lymphocyte1780854090_ACaucasianNot reported
    1780854016_AB-lymphocyte1780854016_ACaucasianNot reported
    1780854278_AB-lymphocyte1780854278_ACaucasianNot reported
    1780854336_AB-lymphocyte1780854336_ACaucasianNot reported
    1780854436_AB-lymphocyte1780854436_ACaucasianNot reported
    1780854393_AB-lymphocyte1780854393_ACaucasianNot reported
    1780854128_AB-lymphocyte1780854128_ACaucasianNot reported
    1780846321_AB-lymphocyte1780846321_ACaucasianNot reported
    1780846320_AB-lymphocyte1780846320_ACaucasianNot reported
    1780854079_AB-lymphocyte1780854079_ACaucasianNot reported
    1780854038_AB-lymphocyte1780854038_ACaucasianNot reported
    1780846029_AB-lymphocyte1780846029_ACaucasianNot reported
    1780854058_AB-lymphocyte1780854058_ACaucasianNot reported
    1780854198_AB-lymphocyte1780854198_ACaucasianNot reported
    1780854009_AB-lymphocyte1780854009_ACaucasianNot reported
    1780854437_AB-lymphocyte1780854437_ACaucasianNot reported
    1780854279_AB-lymphocyte1780854279_ACaucasianNot reported
    1780854261_AB-lymphocyte1780854261_ACaucasianNot reported
    1780846322_AB-lymphocyte1780846322_ACaucasianNot reported
    1780854253_AB-lymphocyte1780854253_ACaucasianNot reported
    1780854318_AB-lymphocyte1780854318_ACaucasianNot reported
    1780854185_AB-lymphocyte1780854185_ACaucasianNot reported
    1780854257_AB-lymphocyte1780854257_ACaucasianNot reported
    1780854357_AB-lymphocyte1780854357_ACaucasianNot reported
    1780854340_AB-lymphocyte1780854340_ACaucasianNot reported
    1780854081_AB-lymphocyte1780854081_ACaucasianNot reported
    1780846004_AB-lymphocyte1780846004_ACaucasianNot reported
    1780854296_AB-lymphocyte1780854296_ACaucasianNot reported
    1780854098_AB-lymphocyte1780854098_ACaucasianNot reported
    1780854100_AB-lymphocyte1780854100_ACaucasianNot reported
    1780854305_AB-lymphocyte1780854305_ACaucasianNot reported
    1780854288_AB-lymphocyte1780854288_ACaucasianNot reported
    1780854210_AB-lymphocyte1780854210_ACaucasianNot reported
    1780854196_AB-lymphocyte1780854196_ACaucasianNot reported
    1780854065_AB-lymphocyte1780854065_ACaucasianNot reported
    1780854294_AB-lymphocyte1780854294_ACaucasianNot reported
    1780854205_AB-lymphocyte1780854205_ACaucasianNot reported
    1780854123_AB-lymphocyte1780854123_ACaucasianNot reported
    1780854023_AB-lymphocyte1780854023_ACaucasianNot reported
    1780854158_AB-lymphocyte1780854158_ACaucasianNot reported
    1780854235_AB-lymphocyte1780854235_ACaucasianNot reported
    1780854063_AB-lymphocyte1780854063_ACaucasianNot reported
    1780854179_AB-lymphocyte1780854179_ACaucasianNot reported
    1780854129_AB-lymphocyte1780854129_ACaucasianNot reported
    1780854117_AB-lymphocyte1780854117_ACaucasianNot reported
    1780854313_AB-lymphocyte1780854313_ACaucasianNot reported
    1780854101_AB-lymphocyte1780854101_ACaucasianNot reported
    1780854206_AB-lymphocyte1780854206_ACaucasianNot reported
    1780854325_AB-lymphocyte1780854325_ACaucasianNot reported
    1780846005_AB-lymphocyte1780846005_ACaucasianNot reported
    1780854293_AB-lymphocyte1780854293_ACaucasianNot reported
    1780854095_AB-lymphocyte1780854095_ACaucasianNot reported
    1780854354_AB-lymphocyte1780854354_ACaucasianNot reported
    1780854295_AB-lymphocyte1780854295_ACaucasianNot reported
    1780846030_AB-lymphocyte1780846030_ACaucasianNot reported
    1780854339_AB-lymphocyte1780854339_ACaucasianNot reported
    1780854384_AB-lymphocyte1780854384_ACaucasianNot reported
    1780854418_AB-lymphocyte1780854418_ACaucasianNot reported
    1780854362_AB-lymphocyte1780854362_ACaucasianNot reported
    1780854338_AB-lymphocyte1780854338_ACaucasianNot reported
    1780854216_AB-lymphocyte1780854216_ACaucasianNot reported
    1780854299_AB-lymphocyte1780854299_ACaucasianNot reported
    1780854130_AB-lymphocyte1780854130_ACaucasianNot reported
    1780854061_AB-lymphocyte1780854061_ACaucasianNot reported
    1780854322_AB-lymphocyte1780854322_ACaucasianNot reported
    1780854328_AB-lymphocyte1780854328_ACaucasianNot reported
    1780854197_AB-lymphocyte1780854197_ACaucasianNot reported
    1780854080_AB-lymphocyte1780854080_ACaucasianNot reported
    1780854334_AB-lymphocyte1780854334_ACaucasianNot reported
    1780854039_AB-lymphocyte1780854039_ACaucasianNot reported
    1780854419_AB-lymphocyte1780854419_ACaucasianNot reported
    1780854127_AB-lymphocyte1780854127_ACaucasianNot reported
    1780854219_AB-lymphocyte1780854219_ACaucasianNot reported
    1780854264_AB-lymphocyte1780854264_ACaucasianNot reported
    1780854238_AB-lymphocyte1780854238_ACaucasianNot reported
    1780854215_AB-lymphocyte1780854215_ACaucasianNot reported
    1780854302_AB-lymphocyte1780854302_ACaucasianNot reported
    1780854096_AB-lymphocyte1780854096_ACaucasianNot reported
    1780854417_AB-lymphocyte1780854417_ACaucasianNot reported
    1780854335_AB-lymphocyte1780854335_ACaucasianNot reported
    1780854260_AB-lymphocyte1780854260_ACaucasianNot reported
    1780854231_AB-lymphocyte1780854231_ACaucasianNot reported
    1780854430_AB-lymphocyte1780854430_ACaucasianNot reported
    1780854176_AB-lymphocyte1780854176_ACaucasianNot reported
    1780854118_AB-lymphocyte1780854118_ACaucasianNot reported
    Sampleset ID:
    5
    Name:
    PARC (CAP AND PRINCE)
    Sampleset Type:
    Control
    Description:
    The PARC samples are a subset of the cohorts used in two statin trials, CAP and PRINCE and consist of 960 middle-age (40-70 years) individuals of European descent living in the United States with moderately high levels of total cholesterol. Illumina 317K Data. PMIDs:11434828, 16516587
    Size:
    936 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    6
    Name:
    London
    Sampleset Type:
    Control
    Description:
    The London samples represent parents of asthamic children from Mexico City. Illumina 550KData. PMID:19714205
    Size:
    760 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    7
    Name:
    PARC (CAP2)
    Sampleset Type:
    Control
    Description:
    The PARC samples are a subset of the cohorts used in two statin trials, CAP2 and PRINCE2 and consist of middle-age (40-70 years) individuals of European descent living in the United States with moderately high levels of total cholesterol. N=232 after sample quality control. Illumina 610K Quad Data. PMIDs:11434828, 16516587
    Size:
    232 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    8
    Name:
    PARC (PRINCE2)
    Sampleset Type:
    Control
    Description:
    The PARC samples are a subset of the cohorts used in two statin trials, CAP2 and PRINCE2 and consist of middle-age (40-70 years) individuals of European descent living in the United States with moderately high levels of total cholesterol. N=232 after sample quality control. Illumina 610K Quad Data. PMIDs:11434828, 16516587
    Size:
    534 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    9
    Name:
    FHCRC
    Sampleset Type:
    Control
    Description:
    The FHCRC set are part of an ongoing Genome-wide Association Study to Identify Genetic Components of Hip Fracture in the Women's Health Initiative. Samples represent Post-menopausal (50-79 years) Female controls for pancreatic cancer, colon cancer, and cases and controls for a hip fracture study. Illumina 610 Quadv1_B Data
    Size:
    1,430 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    10
    Name:
    inChianti
    Sampleset Type:
    Control
    Description:
    Population-based study of older persons living in the Chianti geographic area. Illumina 550v3_A Data
    Size:
    695 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    11
    Name:
    WTCCC2-NBS
    Sampleset Type:
    Control
    Description:
    UK Blood Service Control Group (blood donors, age range 18-69 years). Custom Illumina 1.2M Data. PMID: 20360734 Study website: https://www.wtccc.org.uk/
    Size:
    2,090 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    12
    Name:
    Aggregation of Samplesets 2-12
    Sampleset Type:
    Control
    Description:
    Aggregate sampleset for use as reference_value in Experiment 2
    Size:
    8,329 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoveryOligo aCGHProbe signal intensity16,526
    2DiscoverySNP arraySNP genotyping analysis452,383

    Validations

    No validation data were submitted for this study.

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