nstd130 (Leppa et al. 2016)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Virpi Leppa
- Description:
- We analyzed microarray based CNV data from families from the Autism Genetic Resource Exchange (AGRE). We observed a higher burden of large, rare CNVs in individuals with ASD compared to their unaffected siblings, but at a significantly lower level than in simplex families. We also identified a rare ASD and language delay associated de novo deletion overlapping the NR4A2 gene on 2q24.1. Thirty families with previously characterized ASD-associated CNVs showed inheritance pattern, where in 21 of the 30 families, in which at least one affected sibling harbored a major risk CNV, the CNV wasn’t shared by all affected children within that family, indicating other contributing factors. See Variant Summary counts for nstd130 in dbVar Variant Summary.
- Publication(s):
- Leppa et al. 2016
Detailed Information: Download 39657 Variant Regions, Download 110464 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted; Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 2,547 | 7,201 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 2,308 | 7,283 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 2,015 | 6,865 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 2,367 | 7,838 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 2,048 | 5,536 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 2,546 | 8,267 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 2,234 | 5,489 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 1,983 | 6,736 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 1,886 | 4,428 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 1,521 | 4,121 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 1,843 | 5,326 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 1,612 | 4,362 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 944 | 2,864 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 2,455 | 6,254 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 1,599 | 3,609 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 2,256 | 6,471 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 1,239 | 3,149 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 636 | 1,739 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 1,578 | 3,927 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 816 | 1,963 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 628 | 1,332 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 1,271 | 2,679 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 801 | 1,279 | Remapped | NC_000023.11 |
| NT_187361.1 | Chr1|NT_187361.1 | 1 | 2 | Remapped | NT_187361.1 |
| NT_187515.1 | Chr1|NT_187515.1 | 83 | 123 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 16 | 69 | Remapped | NT_187516.1 |
| NT_187517.1 | Chr1|NT_187517.1 | 3 | 5 | Remapped | NT_187517.1 |
| NT_187518.1 | Chr1|NT_187518.1 | 1 | 1 | Remapped | NT_187518.1 |
| NT_187519.1 | Chr1|NT_187519.1 | 5 | 11 | Remapped | NT_187519.1 |
| NT_187646.1 | Chr1|NT_187646.1 | 1 | 1 | Remapped | NT_187646.1 |
| NW_009646196.1 | Chr1|NW_009646196.1 | 1 | 1 | Remapped | NW_009646196.1 |
| NW_011332687.1 | Chr1|NW_011332687.1 | 3 | 6 | Remapped | NW_011332687.1 |
| NW_011332688.1 | Chr1|NW_011332688.1 | 13 | 25 | Remapped | NW_011332688.1 |
| NW_012132914.1 | Chr1|NW_012132914.1 | 56 | 276 | Remapped | NW_012132914.1 |
| NW_014040926.1 | Chr1|NW_014040926.1 | 1 | 1 | Remapped | NW_014040926.1 |
| NW_015495298.1 | Chr1|NW_015495298.1 | 6 | 8 | Remapped | NW_015495298.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 23 | 55 | Remapped | NW_017852928.1 |
| NW_018654707.1 | Chr1|NW_018654707.1 | 37 | 528 | Remapped | NW_018654707.1 |
| NT_187523.1 | Chr2|NT_187523.1 | 98 | 369 | Remapped | NT_187523.1 |
| NT_187527.1 | Chr2|NT_187527.1 | 17 | 64 | Remapped | NT_187527.1 |
| NT_187528.1 | Chr2|NT_187528.1 | 1 | 1 | Remapped | NT_187528.1 |
| NT_187529.1 | Chr2|NT_187529.1 | 66 | 412 | Remapped | NT_187529.1 |
| NT_187530.1 | Chr2|NT_187530.1 | 1 | 1 | Remapped | NT_187530.1 |
| NT_187647.1 | Chr2|NT_187647.1 | 98 | 369 | Remapped | NT_187647.1 |
| NT_187648.1 | Chr2|NT_187648.1 | 5 | 15 | Remapped | NT_187648.1 |
| NW_011332690.1 | Chr2|NW_011332690.1 | 1 | 14 | Remapped | NW_011332690.1 |
| NW_012132915.1 | Chr2|NW_012132915.1 | 112 | 163 | Remapped | NW_012132915.1 |
| NW_018654710.1 | Chr2|NW_018654710.1 | 1 | 1 | Remapped | NW_018654710.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 91 | 141 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 91 | 141 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 91 | 141 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 91 | 141 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 91 | 141 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 91 | 141 | Remapped | NT_187532.1 |
| NT_187534.1 | Chr3|NT_187534.1 | 5 | 9 | Remapped | NT_187534.1 |
| NT_187536.1 | Chr3|NT_187536.1 | 1 | 1 | Remapped | NT_187536.1 |
| NT_187537.1 | Chr3|NT_187537.1 | 1 | 1 | Remapped | NT_187537.1 |
| NT_187538.1 | Chr3|NT_187538.1 | 1 | 1 | Remapped | NT_187538.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 5 | 8 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 91 | 141 | Remapped | NT_187649.1 |
| NW_011332691.1 | Chr3|NW_011332691.1 | 5 | 5 | Remapped | NW_011332691.1 |
| NW_019805488.1 | Chr3|NW_019805488.1 | 40 | 81 | Remapped | NW_019805488.1 |
| NW_019805489.1 | Chr3|NW_019805489.1 | 5 | 9 | Remapped | NW_019805489.1 |
| NW_019805490.1 | Chr3|NW_019805490.1 | 7 | 7 | Remapped | NW_019805490.1 |
| NT_187679.1 | Chr4|NT_187679.1 | 28 | 72 | Remapped | NT_187679.1 |
| NT_167250.2 | Chr4|NT_167250.2 | 12 | 19 | Remapped | NT_167250.2 |
| NT_187540.1 | Chr4|NT_187540.1 | 3 | 3 | Remapped | NT_187540.1 |
| NT_187543.1 | Chr4|NT_187543.1 | 22 | 66 | Remapped | NT_187543.1 |
| NT_187545.1 | Chr4|NT_187545.1 | 3 | 4 | Remapped | NT_187545.1 |
| NT_187650.1 | Chr4|NT_187650.1 | 22 | 66 | Remapped | NT_187650.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 53 | 506 | Remapped | NW_003315915.1 |
| NW_013171799.1 | Chr4|NW_013171799.1 | 3 | 13 | Remapped | NW_013171799.1 |
| NW_013171800.1 | Chr4|NW_013171800.1 | 4 | 5 | Remapped | NW_013171800.1 |
| NW_013171801.1 | Chr4|NW_013171801.1 | 3 | 3 | Remapped | NW_013171801.1 |
| NW_017363814.1 | Chr4|NW_017363814.1 | 1 | 1 | Remapped | NW_017363814.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 10 | 20 | Remapped | NT_187546.1 |
| NT_187547.1 | Chr5|NT_187547.1 | 14 | 25 | Remapped | NT_187547.1 |
| NT_187548.1 | Chr5|NT_187548.1 | 13 | 13 | Remapped | NT_187548.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 2 | 2 | Remapped | NT_187550.1 |
| NT_187651.1 | Chr5|NT_187651.1 | 13 | 14 | Remapped | NT_187651.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 10 | 20 | Remapped | NT_187652.1 |
| NW_003315917.2 | Chr5|NW_003315917.2 | 6 | 9 | Remapped | NW_003315917.2 |
| NW_003315919.1 | Chr5|NW_003315919.1 | 1 | 1 | Remapped | NW_003315919.1 |
| NW_003315920.1 | Chr5|NW_003315920.1 | 7 | 15 | Remapped | NW_003315920.1 |
| NW_003571036.1 | Chr5|NW_003571036.1 | 2 | 2 | Remapped | NW_003571036.1 |
| NW_009646199.1 | Chr5|NW_009646199.1 | 1 | 1 | Remapped | NW_009646199.1 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 7 | 33 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 13 | 14 | Remapped | NW_016107298.1 |
| NT_187692.1 | Chr6|NT_187692.1 | 2 | 2 | Remapped | NT_187692.1 |
| NT_167246.2 | Chr6|NT_167246.2 | 215 | 582 | Remapped | NT_167246.2 |
| NT_167247.2 | Chr6|NT_167247.2 | 78 | 118 | Remapped | NT_167247.2 |
| NT_167248.2 | Chr6|NT_167248.2 | 1 | 2 | Remapped | NT_167248.2 |
| NT_167249.2 | Chr6|NT_167249.2 | 115 | 203 | Remapped | NT_167249.2 |
| NT_167245.2 | Chr6|NT_167245.2 | 63 | 79 | Remapped | NT_167245.2 |
| NT_167244.2 | Chr6|NT_167244.2 | 9 | 10 | Remapped | NT_167244.2 |
| NT_187552.1 | Chr6|NT_187552.1 | 22 | 80 | Remapped | NT_187552.1 |
| NT_187553.1 | Chr6|NT_187553.1 | 5 | 6 | Remapped | NT_187553.1 |
| NT_187555.1 | Chr6|NT_187555.1 | 1 | 1 | Remapped | NT_187555.1 |
| NT_187556.1 | Chr6|NT_187556.1 | 7 | 9 | Remapped | NT_187556.1 |
| NW_009646200.1 | Chr6|NW_009646200.1 | 6 | 6 | Remapped | NW_009646200.1 |
| NW_012132918.1 | Chr6|NW_012132918.1 | 5 | 7 | Remapped | NW_012132918.1 |
| NW_017363815.1 | Chr6|NW_017363815.1 | 1 | 1 | Remapped | NW_017363815.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 11 | 19 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 60 | 122 | Remapped | NT_187558.1 |
| NT_187560.1 | Chr7|NT_187560.1 | 4 | 15 | Remapped | NT_187560.1 |
| NT_187561.1 | Chr7|NT_187561.1 | 11 | 21 | Remapped | NT_187561.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 167 | 967 | Remapped | NT_187562.1 |
| NT_187564.1 | Chr7|NT_187564.1 | 12 | 89 | Remapped | NT_187564.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 60 | 122 | Remapped | NT_187653.1 |
| NW_017852930.1 | Chr7|NW_017852930.1 | 1 | 1 | Remapped | NW_017852930.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 5 | 7 | Remapped | NW_018654714.1 |
| NW_018654715.1 | Chr7|NW_018654715.1 | 38 | 171 | Remapped | NW_018654715.1 |
| NW_019805493.1 | Chr7|NW_019805493.1 | 13 | 13 | Remapped | NW_019805493.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 5 | 5 | Remapped | NT_187680.1 |
| NT_187567.1 | Chr8|NT_187567.1 | 29 | 102 | Remapped | NT_187567.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 3 | 3 | Remapped | NT_187568.1 |
| NT_187569.1 | Chr8|NT_187569.1 | 2 | 4 | Remapped | NT_187569.1 |
| NT_187570.1 | Chr8|NT_187570.1 | 51 | 85 | Remapped | NT_187570.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 112 | 230 | Remapped | NT_187571.1 |
| NT_187574.1 | Chr8|NT_187574.1 | 11 | 11 | Remapped | NT_187574.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 91 | 228 | Remapped | NT_187576.1 |
| NT_187577.1 | Chr8|NT_187577.1 | 3 | 3 | Remapped | NT_187577.1 |
| NT_187655.1 | Chr8|NT_187655.1 | 1 | 1 | Remapped | NT_187655.1 |
| NW_017852932.1 | Chr8|NW_017852932.1 | 2 | 3 | Remapped | NW_017852932.1 |
| NW_018654716.1 | Chr8|NW_018654716.1 | 37 | 82 | Remapped | NW_018654716.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 173 | 335 | Remapped | NW_018654717.1 |
| NW_019805494.1 | Chr8|NW_019805494.1 | 2 | 2 | Remapped | NW_019805494.1 |
| NT_187578.1 | Chr9|NT_187578.1 | 1 | 1 | Remapped | NT_187578.1 |
| NW_003315928.1 | Chr9|NW_003315928.1 | 2 | 3 | Remapped | NW_003315928.1 |
| NW_003315930.1 | Chr9|NW_003315930.1 | 3 | 3 | Remapped | NW_003315930.1 |
| NW_013171804.1 | Chr9|NW_013171804.1 | 1 | 1 | Remapped | NW_013171804.1 |
| NW_013171805.1 | Chr9|NW_013171805.1 | 2 | 2 | Remapped | NW_013171805.1 |
| NT_187579.1 | Chr10|NT_187579.1 | 21 | 46 | Remapped | NT_187579.1 |
| NT_187580.1 | Chr10|NT_187580.1 | 9 | 86 | Remapped | NT_187580.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 16 | 29 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 1 | 1 | Remapped | NW_003315935.1 |
| NW_013171806.1 | Chr10|NW_013171806.1 | 21 | 60 | Remapped | NW_013171806.1 |
| NW_013171807.1 | Chr10|NW_013171807.1 | 1 | 1 | Remapped | NW_013171807.1 |
| NT_187681.1 | Chr11|NT_187681.1 | 24 | 61 | Remapped | NT_187681.1 |
| NT_187657.1 | Chr11|NT_187657.1 | 3 | 9 | Remapped | NT_187657.1 |
| NT_187581.1 | Chr11|NT_187581.1 | 4 | 4 | Remapped | NT_187581.1 |
| NT_187583.1 | Chr11|NT_187583.1 | 19 | 226 | Remapped | NT_187583.1 |
| NT_187584.1 | Chr11|NT_187584.1 | 2 | 8 | Remapped | NT_187584.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 8 | 8 | Remapped | NT_187585.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 88 | 166 | Remapped | NT_187586.1 |
| NW_003315936.1 | Chr11|NW_003315936.1 | 1 | 3 | Remapped | NW_003315936.1 |
| NW_011332695.1 | Chr11|NW_011332695.1 | 19 | 226 | Remapped | NW_011332695.1 |
| NW_015148966.1 | Chr11|NW_015148966.1 | 34 | 74 | Remapped | NW_015148966.1 |
| NW_019805495.1 | Chr11|NW_019805495.1 | 12 | 46 | Remapped | NW_019805495.1 |
| NW_019805497.1 | Chr11|NW_019805497.1 | 6 | 7 | Remapped | NW_019805497.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 40 | 76 | Remapped | NT_187658.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 104 | 359 | Remapped | NT_187587.1 |
| NT_187589.1 | Chr12|NT_187589.1 | 2 | 2 | Remapped | NT_187589.1 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 3 | 5 | Remapped | NW_003571049.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 24 | 43 | Remapped | NW_003571050.1 |
| NW_011332696.1 | Chr12|NW_011332696.1 | 5 | 9 | Remapped | NW_011332696.1 |
| NW_013171809.1 | Chr12|NW_013171809.1 | 1 | 1 | Remapped | NW_013171809.1 |
| NW_015148967.1 | Chr12|NW_015148967.1 | 6 | 8 | Remapped | NW_015148967.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 10 | 30 | Remapped | NW_018654718.1 |
| NW_019805499.1 | Chr12|NW_019805499.1 | 1 | 2 | Remapped | NW_019805499.1 |
| NT_187593.1 | Chr13|NT_187593.1 | 5 | 6 | Remapped | NT_187593.1 |
| NT_187594.1 | Chr13|NT_187594.1 | 26 | 47 | Remapped | NT_187594.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 4 | 5 | Remapped | NW_011332698.1 |
| NW_011332699.1 | Chr13|NW_011332699.1 | 15 | 20 | Remapped | NW_011332699.1 |
| NT_113796.3 | Chr14|NT_113796.3 | 18 | 39 | Remapped | NT_113796.3 |
| NT_187599.1 | Chr14|NT_187599.1 | 1 | 1 | Remapped | NT_187599.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 686 | 1,160 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 7 | 8 | Remapped | NT_187601.1 |
| NW_018654721.1 | Chr14|NW_018654721.1 | 1 | 1 | Remapped | NW_018654721.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 22 | 30 | Remapped | NW_018654722.1 |
| NT_187659.1 | Chr15|NT_187659.1 | 3 | 3 | Remapped | NT_187659.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 55 | 95 | Remapped | NT_187660.1 |
| NT_187382.1 | Chr15|NT_187382.1 | 24 | 27 | Remapped | NT_187382.1 |
| NT_187602.1 | Chr15|NT_187602.1 | 32 | 36 | Remapped | NT_187602.1 |
| NT_187603.1 | Chr15|NT_187603.1 | 3 | 3 | Remapped | NT_187603.1 |
| NT_187605.1 | Chr15|NT_187605.1 | 1 | 1 | Remapped | NT_187605.1 |
| NW_003315944.2 | Chr15|NW_003315944.2 | 1 | 1 | Remapped | NW_003315944.2 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 61 | 102 | Remapped | NW_011332701.1 |
| NW_012132920.1 | Chr15|NW_012132920.1 | 1 | 1 | Remapped | NW_012132920.1 |
| NT_187383.1 | Chr16|NT_187383.1 | 1 | 1 | Remapped | NT_187383.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 61 | 100 | Remapped | NT_187607.1 |
| NT_187608.1 | Chr16|NT_187608.1 | 19 | 28 | Remapped | NT_187608.1 |
| NT_187609.1 | Chr16|NT_187609.1 | 2 | 2 | Remapped | NT_187609.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 2 | 2 | Remapped | NT_187610.1 |
| NW_012132921.1 | Chr16|NW_012132921.1 | 10 | 13 | Remapped | NW_012132921.1 |
| NW_013171812.1 | Chr16|NW_013171812.1 | 2 | 2 | Remapped | NW_013171812.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 36 | 62 | Remapped | NW_017852933.1 |
| NW_018654723.1 | Chr16|NW_018654723.1 | 1 | 1 | Remapped | NW_018654723.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 197 | 582 | Remapped | NT_187661.1 |
| NT_187662.1 | Chr17|NT_187662.1 | 11 | 63 | Remapped | NT_187662.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 111 | 468 | Remapped | NT_187663.1 |
| NT_187664.1 | Chr17|NT_187664.1 | 4 | 5 | Remapped | NT_187664.1 |
| NW_003871093.1 | Chr17|NW_003871093.1 | 12 | 19 | Remapped | NW_003871093.1 |
| NT_167251.2 | Chr17|NT_167251.2 | 34 | 97 | Remapped | NT_167251.2 |
| NT_187611.1 | Chr17|NT_187611.1 | 18 | 19 | Remapped | NT_187611.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 14 | 14 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 6 | 16 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 182 | 489 | Remapped | NT_187614.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 42 | 374 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 6 | 42 | Remapped | NW_003315953.2 |
| NW_003315954.1 | Chr17|NW_003315954.1 | 1 | 2 | Remapped | NW_003315954.1 |
| NW_003871091.1 | Chr17|NW_003871091.1 | 5 | 10 | Remapped | NW_003871091.1 |
| NW_003871092.1 | Chr17|NW_003871092.1 | 8 | 10 | Remapped | NW_003871092.1 |
| NW_016107299.1 | Chr17|NW_016107299.1 | 3 | 3 | Remapped | NW_016107299.1 |
| NW_017363817.1 | Chr17|NW_017363817.1 | 4 | 4 | Remapped | NW_017363817.1 |
| NW_017363818.1 | Chr17|NW_017363818.1 | 5 | 7 | Remapped | NW_017363818.1 |
| NW_017363819.1 | Chr17|NW_017363819.1 | 7 | 24 | Remapped | NW_017363819.1 |
| NT_187666.1 | Chr18|NT_187666.1 | 7 | 8 | Remapped | NT_187666.1 |
| NW_003315959.1 | Chr18|NW_003315959.1 | 2 | 3 | Remapped | NW_003315959.1 |
| NW_003315961.1 | Chr18|NW_003315961.1 | 7 | 8 | Remapped | NW_003315961.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 2 | 2 | Remapped | NW_013171814.1 |
| NW_014040928.1 | Chr18|NW_014040928.1 | 3 | 12 | Remapped | NW_014040928.1 |
| NW_019805503.1 | Chr18|NW_019805503.1 | 18 | 29 | Remapped | NW_019805503.1 |
| NT_187636.1 | Chr19|NT_187636.1 | 2 | 3 | Remapped | NT_187636.1 |
| NT_187675.1 | Chr19|NT_187675.1 | 2 | 3 | Remapped | NT_187675.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 149 | 319 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 23 | 42 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 5 | 6 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 5 | 6 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 5 | 6 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 96 | 221 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 5 | 6 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 8 | 16 | Remapped | NW_003571055.2 |
| NT_187621.1 | Chr19|NT_187621.1 | 13 | 38 | Remapped | NT_187621.1 |
| NT_187622.1 | Chr19|NT_187622.1 | 1 | 1 | Remapped | NT_187622.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 9 | 32 | Remapped | NW_003315962.1 |
| NW_003315965.1 | Chr19|NW_003315965.1 | 8 | 9 | Remapped | NW_003315965.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 99 | 231 | Remapped | NW_003571054.1 |
| NW_009646206.1 | Chr19|NW_009646206.1 | 1 | 1 | Remapped | NW_009646206.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 1 | 2 | Remapped | NW_014040929.1 |
| NW_016107303.1 | Chr19|NW_016107303.1 | 2 | 3 | Remapped | NW_016107303.1 |
| NT_187623.1 | Chr20|NT_187623.1 | 2 | 2 | Remapped | NT_187623.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 9 | 11 | Remapped | NT_187624.1 |
| NT_187625.1 | Chr20|NT_187625.1 | 1 | 1 | Remapped | NT_187625.1 |
| NW_003315966.2 | Chr20|NW_003315966.2 | 1 | 1 | Remapped | NW_003315966.2 |
| NT_187626.1 | Chr21|NT_187626.1 | 17 | 48 | Remapped | NT_187626.1 |
| NW_003315968.2 | Chr21|NW_003315968.2 | 11 | 20 | Remapped | NW_003315968.2 |
| NT_187682.1 | Chr22|NT_187682.1 | 4 | 5 | Remapped | NT_187682.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 163 | 208 | Remapped | NT_187629.1 |
| NT_187632.1 | Chr22|NT_187632.1 | 1 | 1 | Remapped | NT_187632.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 142 | 710 | Remapped | NT_187633.1 |
| NW_003315972.2 | Chr22|NW_003315972.2 | 10 | 72 | Remapped | NW_003315972.2 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 1,067 | 2,517 | Submitted | NC_000001.10 |
| NC_000002.11 | Chr2 | 873 | 2,045 | Submitted | NC_000002.11 |
| NC_000003.11 | Chr3 | 840 | 2,108 | Submitted | NC_000003.11 |
| NC_000004.11 | Chr4 | 915 | 2,599 | Submitted | NC_000004.11 |
| NC_000005.9 | Chr5 | 901 | 2,095 | Submitted | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,037 | 2,366 | Submitted | NC_000006.11 |
| NC_000007.13 | Chr7 | 938 | 1,612 | Submitted | NC_000007.13 |
| NC_000008.10 | Chr8 | 770 | 2,193 | Submitted | NC_000008.10 |
| NC_000009.11 | Chr9 | 660 | 1,279 | Submitted | NC_000009.11 |
| NC_000010.10 | Chr10 | 670 | 1,228 | Submitted | NC_000010.10 |
| NC_000011.9 | Chr11 | 702 | 1,753 | Submitted | NC_000011.9 |
| NC_000012.11 | Chr12 | 680 | 1,211 | Submitted | NC_000012.11 |
| NC_000013.10 | Chr13 | 321 | 782 | Submitted | NC_000013.10 |
| NC_000014.8 | Chr14 | 954 | 1,806 | Submitted | NC_000014.8 |
| NC_000015.9 | Chr15 | 739 | 1,359 | Submitted | NC_000015.9 |
| NC_000016.9 | Chr16 | 913 | 1,717 | Submitted | NC_000016.9 |
| NC_000017.10 | Chr17 | 489 | 997 | Submitted | NC_000017.10 |
| NC_000018.9 | Chr18 | 214 | 480 | Submitted | NC_000018.9 |
| NC_000019.9 | Chr19 | 622 | 1,381 | Submitted | NC_000019.9 |
| NC_000020.10 | Chr20 | 369 | 631 | Submitted | NC_000020.10 |
| NC_000021.8 | Chr21 | 293 | 466 | Submitted | NC_000021.8 |
| NC_000022.10 | Chr22 | 416 | 925 | Submitted | NC_000022.10 |
| NC_000023.10 | ChrX | 317 | 636 | Submitted | NC_000023.10 |
| NC_000001.10 | Chr1 | 1,519 | 4,766 | Remapped | NC_000001.10 |
| NC_000002.11 | Chr2 | 1,435 | 5,238 | Remapped | NC_000002.11 |
| NC_000003.11 | Chr3 | 1,175 | 4,757 | Remapped | NC_000003.11 |
| NC_000004.11 | Chr4 | 1,451 | 5,238 | Remapped | NC_000004.11 |
| NC_000005.9 | Chr5 | 1,147 | 3,441 | Remapped | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,513 | 5,906 | Remapped | NC_000006.11 |
| NC_000007.13 | Chr7 | 1,328 | 3,968 | Remapped | NC_000007.13 |
| NC_000008.10 | Chr8 | 1,231 | 4,609 | Remapped | NC_000008.10 |
| NC_000009.11 | Chr9 | 1,251 | 3,175 | Remapped | NC_000009.11 |
| NC_000010.10 | Chr10 | 889 | 2,943 | Remapped | NC_000010.10 |
| NC_000011.9 | Chr11 | 1,206 | 3,660 | Remapped | NC_000011.9 |
| NC_000012.11 | Chr12 | 931 | 3,148 | Remapped | NC_000012.11 |
| NC_000013.10 | Chr13 | 623 | 2,082 | Remapped | NC_000013.10 |
| NC_000014.8 | Chr14 | 1,504 | 4,461 | Remapped | NC_000014.8 |
| NC_000015.9 | Chr15 | 850 | 2,239 | Remapped | NC_000015.9 |
| NC_000016.9 | Chr16 | 1,343 | 4,755 | Remapped | NC_000016.9 |
| NC_000017.10 | Chr17 | 777 | 2,056 | Remapped | NC_000017.10 |
| NC_000018.9 | Chr18 | 422 | 1,259 | Remapped | NC_000018.9 |
| NC_000019.9 | Chr19 | 980 | 2,589 | Remapped | NC_000019.9 |
| NC_000020.10 | Chr20 | 447 | 1,332 | Remapped | NC_000020.10 |
| NC_000021.8 | Chr21 | 336 | 867 | Remapped | NC_000021.8 |
| NC_000022.10 | Chr22 | 949 | 2,058 | Remapped | NC_000022.10 |
| NC_000023.10 | ChrX | 485 | 999 | Remapped | NC_000023.10 |
| NW_003315903.1 | Chr1|NW_003315903.1 | 5 | 6 | Remapped | NW_003315903.1 |
| NW_003871055.3 | Chr1|NW_003871055.3 | 50 | 221 | Remapped | NW_003871055.3 |
| NW_003871056.3 | Chr1|NW_003871056.3 | 5 | 30 | Remapped | NW_003871056.3 |
| NW_003871057.1 | Chr1|NW_003871057.1 | 1 | 1 | Remapped | NW_003871057.1 |
| NW_003871058.1 | Chr3|NW_003871058.1 | 3 | 3 | Remapped | NW_003871058.1 |
| NT_167250.1 | Chr4|NT_167250.1 | 12 | 19 | Remapped | NT_167250.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 21 | 248 | Remapped | NW_003315915.1 |
| NW_003315916.1 | Chr4|NW_003315916.1 | 1 | 1 | Remapped | NW_003315916.1 |
| NW_004775427.1 | Chr4|NW_004775427.1 | 10 | 11 | Remapped | NW_004775427.1 |
| NW_003315920.1 | Chr5|NW_003315920.1 | 2 | 6 | Remapped | NW_003315920.1 |
| NW_003571036.1 | Chr5|NW_003571036.1 | 2 | 2 | Remapped | NW_003571036.1 |
| NW_004775428.1 | Chr5|NW_004775428.1 | 11 | 82 | Remapped | NW_004775428.1 |
| NT_167244.1 | Chr6|NT_167244.1 | 9 | 10 | Remapped | NT_167244.1 |
| NT_167245.1 | Chr6|NT_167245.1 | 63 | 79 | Remapped | NT_167245.1 |
| NT_167246.1 | Chr6|NT_167246.1 | 224 | 593 | Remapped | NT_167246.1 |
| NT_167247.1 | Chr6|NT_167247.1 | 78 | 118 | Remapped | NT_167247.1 |
| NT_167248.1 | Chr6|NT_167248.1 | 3 | 4 | Remapped | NT_167248.1 |
| NT_167249.1 | Chr6|NT_167249.1 | 117 | 205 | Remapped | NT_167249.1 |
| NW_004070866.1 | Chr6|NW_004070866.1 | 3 | 9 | Remapped | NW_004070866.1 |
| NW_004504300.1 | Chr6|NW_004504300.1 | 6 | 6 | Remapped | NW_004504300.1 |
| NW_003571038.1 | Chr7|NW_003571038.1 | 6 | 7 | Remapped | NW_003571038.1 |
| NW_003571039.1 | Chr7|NW_003571039.1 | 1 | 2 | Remapped | NW_003571039.1 |
| NW_003571040.1 | Chr7|NW_003571040.1 | 131 | 932 | Remapped | NW_003571040.1 |
| NW_003871064.1 | Chr7|NW_003871064.1 | 28 | 56 | Remapped | NW_003871064.1 |
| NW_003315923.1 | Chr8|NW_003315923.1 | 48 | 139 | Remapped | NW_003315923.1 |
| NW_003315924.1 | Chr8|NW_003315924.1 | 34 | 475 | Remapped | NW_003315924.1 |
| NW_003571042.1 | Chr8|NW_003571042.1 | 53 | 155 | Remapped | NW_003571042.1 |
| NW_003871066.2 | Chr8|NW_003871066.2 | 2 | 2 | Remapped | NW_003871066.2 |
| NW_003315927.1 | Chr9|NW_003315927.1 | 3 | 4 | Remapped | NW_003315927.1 |
| NW_003315928.1 | Chr9|NW_003315928.1 | 2 | 3 | Remapped | NW_003315928.1 |
| NW_003315930.1 | Chr9|NW_003315930.1 | 1 | 1 | Remapped | NW_003315930.1 |
| NW_004070868.1 | Chr9|NW_004070868.1 | 9 | 19 | Remapped | NW_004070868.1 |
| NW_004070869.1 | Chr9|NW_004070869.1 | 2 | 5 | Remapped | NW_004070869.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 11 | 23 | Remapped | NW_003315934.1 |
| NW_003571043.1 | Chr10|NW_003571043.1 | 2 | 3 | Remapped | NW_003571043.1 |
| NW_003871068.1 | Chr10|NW_003871068.1 | 87 | 435 | Remapped | NW_003871068.1 |
| NW_003871071.1 | Chr10|NW_003871071.1 | 1 | 1 | Remapped | NW_003871071.1 |
| NW_004070870.1 | Chr10|NW_004070870.1 | 1 | 1 | Remapped | NW_004070870.1 |
| NW_004775432.1 | Chr10|NW_004775432.1 | 5 | 6 | Remapped | NW_004775432.1 |
| NW_003315936.1 | Chr11|NW_003315936.1 | 1 | 3 | Remapped | NW_003315936.1 |
| NW_003571045.1 | Chr11|NW_003571045.1 | 4 | 7 | Remapped | NW_003571045.1 |
| NW_003871075.1 | Chr11|NW_003871075.1 | 1 | 1 | Remapped | NW_003871075.1 |
| NW_003571048.1 | Chr12|NW_003571048.1 | 1 | 3 | Remapped | NW_003571048.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 4 | 56 | Remapped | NW_003571050.1 |
| NW_004166863.1 | Chr14|NW_004166863.1 | 408 | 979 | Remapped | NW_004166863.1 |
| NW_003315944.1 | Chr15|NW_003315944.1 | 1 | 1 | Remapped | NW_003315944.1 |
| NW_003871085.1 | Chr16|NW_003871085.1 | 1 | 1 | Remapped | NW_003871085.1 |
| NT_167251.1 | Chr17|NT_167251.1 | 21 | 91 | Remapped | NT_167251.1 |
| NW_003315948.2 | Chr17|NW_003315948.2 | 4 | 4 | Remapped | NW_003315948.2 |
| NW_003315949.1 | Chr17|NW_003315949.1 | 71 | 211 | Remapped | NW_003315949.1 |
| NW_003315950.2 | Chr17|NW_003315950.2 | 18 | 19 | Remapped | NW_003315950.2 |
| NW_003315953.1 | Chr17|NW_003315953.1 | 3 | 4 | Remapped | NW_003315953.1 |
| NW_003871086.1 | Chr17|NW_003871086.1 | 53 | 292 | Remapped | NW_003871086.1 |
| NW_003871087.1 | Chr17|NW_003871087.1 | 2 | 2 | Remapped | NW_003871087.1 |
| NW_003871088.1 | Chr17|NW_003871088.1 | 8 | 24 | Remapped | NW_003871088.1 |
| NW_003871089.1 | Chr17|NW_003871089.1 | 1 | 1 | Remapped | NW_003871089.1 |
| NW_003871090.1 | Chr17|NW_003871090.1 | 5 | 6 | Remapped | NW_003871090.1 |
| NW_003871093.1 | Chr17|NW_003871093.1 | 4 | 9 | Remapped | NW_003871093.1 |
| NW_004070872.2 | Chr17|NW_004070872.2 | 20 | 278 | Remapped | NW_004070872.2 |
| NW_003315959.1 | Chr18|NW_003315959.1 | 1 | 2 | Remapped | NW_003315959.1 |
| NW_003315961.1 | Chr18|NW_003315961.1 | 2 | 2 | Remapped | NW_003315961.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 5 | 19 | Remapped | NW_003315962.1 |
| NW_003315965.1 | Chr19|NW_003315965.1 | 4 | 4 | Remapped | NW_003315965.1 |
| NW_003571053.2 | Chr19|NW_003571053.2 | 36 | 159 | Remapped | NW_003571053.2 |
| NW_003571061.1 | Chr19|NW_003571061.1 | 1 | 1 | Remapped | NW_003571061.1 |
| NW_004166865.1 | Chr19|NW_004166865.1 | 26 | 45 | Remapped | NW_004166865.1 |
| NW_003315966.1 | Chr20|NW_003315966.1 | 1 | 1 | Remapped | NW_003315966.1 |
| NW_003571063.2 | Chr20|NW_003571063.2 | 3 | 3 | Remapped | NW_003571063.2 |
| NW_004504304.1 | Chr20|NW_004504304.1 | 1 | 1 | Remapped | NW_004504304.1 |
| NW_003315968.1 | Chr21|NW_003315968.1 | 5 | 12 | Remapped | NW_003315968.1 |
| NW_004775435.1 | Chr21|NW_004775435.1 | 1 | 1 | Remapped | NW_004775435.1 |
| NW_003315972.1 | Chr22|NW_003315972.1 | 9 | 71 | Remapped | NW_003315972.1 |
| NW_004070874.1 | Chr22|NW_004070874.1 | 1 | 1 | Remapped | NW_004070874.1 |
| NW_004070876.1 | Chr22|NW_004070876.1 | 1 | 1 | Remapped | NW_004070876.1 |
| NW_003871099.1 | ChrX|NW_003871099.1 | 1 | 1 | Remapped | NW_003871099.1 |
| NW_003871100.1 | ChrX|NW_003871100.1 | 8 | 12 | Remapped | NW_003871100.1 |
| NW_003871101.3 | ChrX|NW_003871101.3 | 7 | 13 | Remapped | NW_003871101.3 |
| NW_003871103.3 | ChrX|NW_003871103.3 | 13 | 16 | Remapped | NW_003871103.3 |
| NW_004070878.1 | ChrX|NW_004070878.1 | 3 | 3 | Remapped | NW_004070878.1 |
| NW_004070880.2 | ChrX|NW_004070880.2 | 25 | 34 | Remapped | NW_004070880.2 |
| NW_004070881.1 | ChrX|NW_004070881.1 | 3 | 9 | Remapped | NW_004070881.1 |
| NW_004070885.1 | ChrX|NW_004070885.1 | 3 | 8 | Remapped | NW_004070885.1 |
| NW_004070887.1 | ChrX|NW_004070887.1 | 3 | 4 | Remapped | NW_004070887.1 |
| NW_004070888.1 | ChrX|NW_004070888.1 | 34 | 47 | Remapped | NW_004070888.1 |
| NW_004070889.1 | ChrX|NW_004070889.1 | 4 | 4 | Remapped | NW_004070889.1 |
| NW_004070890.2 | ChrX|NW_004070890.2 | 35 | 53 | Remapped | NW_004070890.2 |
| NW_004070891.1 | ChrX|NW_004070891.1 | 9 | 13 | Remapped | NW_004070891.1 |
| NW_004070892.1 | ChrX|NW_004070892.1 | 4 | 5 | Remapped | NW_004070892.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.9 | Chr1 | 1,520 | 4,767 | Submitted | NC_000001.9 |
| NC_000002.10 | Chr2 | 1,435 | 5,238 | Submitted | NC_000002.10 |
| NC_000003.10 | Chr3 | 1,175 | 4,757 | Submitted | NC_000003.10 |
| NC_000004.10 | Chr4 | 1,458 | 5,249 | Submitted | NC_000004.10 |
| NC_000005.8 | Chr5 | 1,147 | 3,441 | Submitted | NC_000005.8 |
| NC_000006.10 | Chr6 | 1,515 | 5,908 | Submitted | NC_000006.10 |
| NC_000007.12 | Chr7 | 1,364 | 4,270 | Submitted | NC_000007.12 |
| NC_000008.9 | Chr8 | 1,241 | 4,631 | Submitted | NC_000008.9 |
| NC_000009.10 | Chr9 | 1,251 | 3,175 | Submitted | NC_000009.10 |
| NC_000010.9 | Chr10 | 888 | 2,942 | Submitted | NC_000010.9 |
| NC_000011.8 | Chr11 | 1,206 | 3,660 | Submitted | NC_000011.8 |
| NC_000012.10 | Chr12 | 932 | 3,151 | Submitted | NC_000012.10 |
| NC_000013.9 | Chr13 | 623 | 2,082 | Submitted | NC_000013.9 |
| NC_000014.7 | Chr14 | 1,504 | 4,461 | Submitted | NC_000014.7 |
| NC_000015.8 | Chr15 | 892 | 2,286 | Submitted | NC_000015.8 |
| NC_000016.8 | Chr16 | 1,343 | 4,755 | Submitted | NC_000016.8 |
| NC_000017.9 | Chr17 | 812 | 2,350 | Submitted | NC_000017.9 |
| NC_000018.8 | Chr18 | 422 | 1,259 | Submitted | NC_000018.8 |
| NC_000019.8 | Chr19 | 1,011 | 2,639 | Submitted | NC_000019.8 |
| NC_000020.9 | Chr20 | 447 | 1,332 | Submitted | NC_000020.9 |
| NC_000021.7 | Chr21 | 336 | 867 | Submitted | NC_000021.7 |
| NC_000022.9 | Chr22 | 949 | 2,058 | Submitted | NC_000022.9 |
| NC_000023.9 | ChrX | 486 | 1,000 | Submitted | NC_000023.9 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.10 | Chr1 | 1,067 | 842 | 131 | 14 | 5 | 75 | 2,517 | 1,937 | 279 | 19 | 11 | 271 |
| NC_000002.11 | Chr2 | 873 | 675 | 65 | 37 | 0 | 96 | 2,045 | 1,602 | 126 | 74 | 0 | 243 |
| NC_000003.11 | Chr3 | 840 | 751 | 17 | 0 | 0 | 72 | 2,108 | 1,965 | 31 | 0 | 0 | 112 |
| NC_000004.11 | Chr4 | 915 | 819 | 47 | 3 | 0 | 46 | 2,599 | 2,239 | 82 | 4 | 0 | 274 |
| NC_000005.9 | Chr5 | 901 | 824 | 9 | 20 | 0 | 48 | 2,095 | 1,972 | 36 | 20 | 0 | 67 |
| NC_000006.11 | Chr6 | 1,037 | 998 | 13 | 4 | 0 | 22 | 2,366 | 2,298 | 16 | 4 | 0 | 48 |
| NC_000007.13 | Chr7 | 938 | 729 | 82 | 39 | 3 | 85 | 1,612 | 1,244 | 141 | 49 | 3 | 175 |
| NC_000008.10 | Chr8 | 770 | 595 | 18 | 13 | 0 | 144 | 2,193 | 1,899 | 20 | 16 | 0 | 258 |
| NC_000009.11 | Chr9 | 660 | 604 | 13 | 24 | 16 | 3 | 1,279 | 1,200 | 30 | 29 | 17 | 3 |
| NC_000010.10 | Chr10 | 670 | 534 | 34 | 39 | 27 | 36 | 1,228 | 992 | 75 | 60 | 35 | 66 |
| NC_000011.9 | Chr11 | 702 | 595 | 34 | 3 | 31 | 39 | 1,753 | 1,379 | 121 | 3 | 33 | 217 |
| NC_000012.11 | Chr12 | 680 | 587 | 4 | 9 | 0 | 80 | 1,211 | 1,022 | 7 | 9 | 0 | 173 |
| NC_000013.10 | Chr13 | 321 | 308 | 1 | 0 | 0 | 12 | 782 | 766 | 1 | 0 | 0 | 15 |
| NC_000014.8 | Chr14 | 954 | 430 | 155 | 47 | 2 | 320 | 1,806 | 1,045 | 204 | 101 | 2 | 454 |
| NC_000015.9 | Chr15 | 739 | 614 | 55 | 43 | 0 | 27 | 1,359 | 1,185 | 82 | 60 | 0 | 32 |
| NC_000016.9 | Chr16 | 913 | 830 | 11 | 29 | 2 | 41 | 1,717 | 1,621 | 11 | 32 | 2 | 51 |
| NC_000017.10 | Chr17 | 489 | 278 | 24 | 15 | 0 | 172 | 997 | 508 | 25 | 16 | 0 | 448 |
| NC_000018.9 | Chr18 | 214 | 204 | 1 | 0 | 0 | 9 | 480 | 463 | 1 | 0 | 0 | 16 |
| NC_000019.9 | Chr19 | 622 | 528 | 24 | 9 | 0 | 61 | 1,381 | 1,182 | 28 | 10 | 0 | 161 |
| NC_000020.10 | Chr20 | 369 | 333 | 23 | 8 | 0 | 5 | 631 | 579 | 38 | 9 | 0 | 5 |
| NC_000021.8 | Chr21 | 293 | 250 | 20 | 0 | 0 | 23 | 466 | 412 | 24 | 0 | 0 | 30 |
| NC_000022.10 | Chr22 | 416 | 290 | 72 | 13 | 0 | 41 | 925 | 669 | 100 | 28 | 0 | 128 |
| NC_000023.10 | ChrX | 317 | 183 | 77 | 56 | 1 | 0 | 636 | 273 | 138 | 118 | 107 | 0 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.9 | Chr1 | 1,520 | 1,448 | 16 | 7 | 0 | 49 | 4,767 | 4,508 | 18 | 9 | 0 | 232 |
| NC_000002.10 | Chr2 | 1,435 | 1,382 | 13 | 33 | 0 | 7 | 5,238 | 5,090 | 27 | 100 | 0 | 21 |
| NC_000003.10 | Chr3 | 1,175 | 1,130 | 38 | 4 | 0 | 3 | 4,757 | 4,691 | 59 | 4 | 0 | 3 |
| NC_000004.10 | Chr4 | 1,458 | 1,361 | 50 | 10 | 0 | 37 | 5,249 | 4,797 | 173 | 11 | 0 | 268 |
| NC_000005.8 | Chr5 | 1,147 | 1,122 | 5 | 5 | 0 | 15 | 3,441 | 3,333 | 8 | 10 | 0 | 90 |
| NC_000006.10 | Chr6 | 1,515 | 1,147 | 5 | 4 | 1 | 358 | 5,908 | 5,066 | 6 | 4 | 1 | 831 |
| NC_000007.12 | Chr7 | 1,364 | 1,172 | 46 | 14 | 0 | 132 | 4,270 | 3,241 | 313 | 19 | 0 | 697 |
| NC_000008.9 | Chr8 | 1,241 | 1,067 | 27 | 20 | 0 | 127 | 4,631 | 3,816 | 40 | 26 | 0 | 749 |
| NC_000009.10 | Chr9 | 1,251 | 1,200 | 12 | 22 | 0 | 17 | 3,175 | 3,106 | 12 | 25 | 0 | 32 |
| NC_000010.9 | Chr10 | 888 | 734 | 17 | 32 | 0 | 105 | 2,942 | 2,388 | 27 | 61 | 0 | 466 |
| NC_000011.8 | Chr11 | 1,206 | 1,136 | 12 | 52 | 0 | 6 | 3,660 | 3,560 | 14 | 75 | 0 | 11 |
| NC_000012.10 | Chr12 | 932 | 907 | 11 | 10 | 0 | 4 | 3,151 | 3,072 | 11 | 12 | 0 | 56 |
| NC_000013.9 | Chr13 | 623 | 620 | 1 | 2 | 0 | 0 | 2,082 | 2,079 | 1 | 2 | 0 | 0 |
| NC_000014.7 | Chr14 | 1,504 | 1,022 | 36 | 38 | 0 | 408 | 4,461 | 3,328 | 89 | 65 | 0 | 979 |
| NC_000015.8 | Chr15 | 892 | 814 | 9 | 23 | 42 | 4 | 2,286 | 2,193 | 11 | 31 | 47 | 4 |
| NC_000016.8 | Chr16 | 1,343 | 1,330 | 2 | 10 | 0 | 1 | 4,755 | 4,740 | 2 | 12 | 0 | 1 |
| NC_000017.9 | Chr17 | 812 | 529 | 83 | 35 | 0 | 165 | 2,350 | 1,496 | 220 | 41 | 0 | 593 |
| NC_000018.8 | Chr18 | 422 | 414 | 3 | 0 | 0 | 5 | 1,259 | 1,249 | 3 | 0 | 0 | 7 |
| NC_000019.8 | Chr19 | 1,011 | 938 | 17 | 7 | 4 | 45 | 2,639 | 2,411 | 34 | 8 | 4 | 182 |
| NC_000020.9 | Chr20 | 447 | 424 | 8 | 10 | 0 | 5 | 1,332 | 1,305 | 10 | 12 | 0 | 5 |
| NC_000021.7 | Chr21 | 336 | 325 | 4 | 1 | 0 | 6 | 867 | 849 | 4 | 1 | 0 | 13 |
| NC_000022.9 | Chr22 | 949 | 915 | 6 | 17 | 0 | 11 | 2,058 | 1,961 | 6 | 18 | 0 | 73 |
| NC_000023.9 | ChrX | 486 | 264 | 62 | 7 | 1 | 152 | 1,000 | 615 | 153 | 9 | 1 | 222 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.9 | Chr1 | 1,520 | 1,222 | 110 | 25 | 4 | 159 | 4,767 | 3,526 | 366 | 40 | 17 | 818 |
| NC_000002.10 | Chr2 | 1,435 | 1,118 | 77 | 34 | 0 | 206 | 5,238 | 4,136 | 214 | 91 | 0 | 797 |
| NC_000003.10 | Chr3 | 1,175 | 1,048 | 38 | 0 | 0 | 89 | 4,757 | 4,518 | 88 | 0 | 0 | 151 |
| NC_000004.10 | Chr4 | 1,458 | 1,277 | 114 | 9 | 0 | 58 | 5,249 | 4,495 | 403 | 9 | 0 | 342 |
| NC_000005.8 | Chr5 | 1,147 | 1,089 | 11 | 10 | 0 | 37 | 3,441 | 3,188 | 161 | 15 | 0 | 77 |
| NC_000006.10 | Chr6 | 1,515 | 1,092 | 16 | 13 | 6 | 388 | 5,908 | 4,946 | 34 | 21 | 7 | 900 |
| NC_000007.12 | Chr7 | 1,364 | 1,039 | 109 | 48 | 3 | 165 | 4,270 | 2,837 | 496 | 89 | 3 | 845 |
| NC_000008.9 | Chr8 | 1,241 | 807 | 82 | 43 | 0 | 309 | 4,631 | 3,347 | 528 | 83 | 0 | 673 |
| NC_000009.10 | Chr9 | 1,251 | 1,164 | 46 | 25 | 9 | 7 | 3,175 | 3,043 | 88 | 27 | 9 | 8 |
| NC_000010.9 | Chr10 | 888 | 754 | 33 | 58 | 10 | 33 | 2,942 | 2,467 | 51 | 253 | 14 | 157 |
| NC_000011.8 | Chr11 | 1,206 | 948 | 69 | 18 | 34 | 137 | 3,660 | 3,154 | 107 | 18 | 54 | 327 |
| NC_000012.10 | Chr12 | 932 | 817 | 14 | 9 | 0 | 92 | 3,151 | 2,807 | 14 | 11 | 0 | 319 |
| NC_000013.9 | Chr13 | 623 | 591 | 7 | 2 | 0 | 23 | 2,082 | 2,030 | 7 | 2 | 0 | 43 |
| NC_000014.7 | Chr14 | 1,504 | 853 | 193 | 60 | 1 | 397 | 4,461 | 3,171 | 421 | 112 | 11 | 746 |
| NC_000015.8 | Chr15 | 892 | 758 | 27 | 36 | 4 | 67 | 2,286 | 1,974 | 156 | 46 | 4 | 106 |
| NC_000016.8 | Chr16 | 1,343 | 1,219 | 18 | 12 | 2 | 92 | 4,755 | 4,557 | 18 | 18 | 3 | 159 |
| NC_000017.9 | Chr17 | 812 | 453 | 93 | 23 | 4 | 239 | 2,350 | 1,076 | 198 | 29 | 4 | 1,043 |
| NC_000018.8 | Chr18 | 422 | 391 | 8 | 0 | 0 | 23 | 1,259 | 1,211 | 10 | 0 | 0 | 38 |
| NC_000019.8 | Chr19 | 1,011 | 878 | 57 | 2 | 4 | 70 | 2,639 | 2,378 | 103 | 2 | 4 | 152 |
| NC_000020.9 | Chr20 | 447 | 414 | 20 | 5 | 0 | 8 | 1,332 | 1,290 | 26 | 6 | 0 | 10 |
| NC_000021.7 | Chr21 | 336 | 266 | 47 | 3 | 0 | 20 | 867 | 744 | 62 | 3 | 0 | 58 |
| NC_000022.9 | Chr22 | 949 | 443 | 298 | 20 | 2 | 186 | 2,058 | 978 | 420 | 93 | 2 | 565 |
| NC_000023.9 | ChrX | 486 | 275 | 141 | 69 | 1 | 0 | 1,000 | 402 | 192 | 156 | 250 | 0 |
Samplesets
Number of Samplesets: 6
- Sampleset ID:
- 1
- Name:
- 550v1
- Size:
- 171 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 2
- Name:
- 550v3
- Size:
- 3,037 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 3
- Name:
- Omni-1a
- Size:
- 889 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 4
- Name:
- Omni-1b
- Size:
- 181 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 5
- Name:
- mni-1c
- Size:
- 101 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 6
- Name:
- Omni-2.5
- Size:
- 972 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Number of Variant Calls |
|---|---|---|---|---|---|
| 1 | Discovery | SNP array | Probe signal intensity | Illumina HumanHap 550v1 | 1,092 |
| 2 | Discovery | SNP array | Probe signal intensity | Illumina HumanHap 550v3 | 18,016 |
| 3 | Discovery | SNP array | Probe signal intensity | Illumina Omni - 1 | 57,170 |
| 4 | Discovery | SNP array | Probe signal intensity | Illumina Omni - 1 | 9,994 |
| 5 | Discovery | SNP array | Probe signal intensity | Illumina Omni - 1 | 5,503 |
| 6 | Discovery | SNP array | Probe signal intensity | Illumina Omni-2.5 | 18,689 |