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nstd212 (Wu et al. 2021)

Organism:
Human
Study Type:
Control Set
Submitter:
Zehang Jiang
Description:
We perform whole-genome long-read sequencing (LRS) for 405 unrelated Chinese and discover a landscape of 132,312 non-redundant SVs, of which 45.2% are novel. To obtain reliable SVs, we used three SV callers, Sniffles, NanoVar and NanoSV, all of which were specifically designed for SV detection from LRS. We retained the SVs identified by at least two callers, which could effectively reduce the false positive of SV detection, particularly for sequencing data with lower depth. Finally, we merged the SVs detected from all the samples for each SV type and constructed a set of 132,312 non-redundant SVs, comprising 67,405 deletions (DELs), 60,182 insertions (INSs), 3,956 duplications (DUPs) and 769 inversions (INVs). See Variant Summary counts for nstd212 in dbVar Variant Summary.
Publication(s):
Wu et al. 2021

Detailed Information: Download 132198 Variant Regions, Download 132312 Variant Calls, Download Both, FTP

Variant Summary

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

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr19,0019,012SubmittedNC_000001.11
NC_000002.12Chr210,39210,396SubmittedNC_000002.12
NC_000003.12Chr37,1257,127SubmittedNC_000003.12
NC_000004.12Chr47,8147,821SubmittedNC_000004.12
NC_000005.10Chr57,2167,221SubmittedNC_000005.10
NC_000006.12Chr67,3917,401SubmittedNC_000006.12
NC_000007.14Chr78,4668,470SubmittedNC_000007.14
NC_000008.11Chr86,4136,418SubmittedNC_000008.11
NC_000009.12Chr95,3465,352SubmittedNC_000009.12
NC_000010.11Chr106,2826,290SubmittedNC_000010.11
NC_000011.10Chr115,5745,576SubmittedNC_000011.10
NC_000012.12Chr126,0066,015SubmittedNC_000012.12
NC_000013.11Chr134,3014,306SubmittedNC_000013.11
NC_000014.9Chr143,5303,531SubmittedNC_000014.9
NC_000015.10Chr153,3713,373SubmittedNC_000015.10
NC_000016.10Chr164,7344,737SubmittedNC_000016.10
NC_000017.11Chr175,0805,084SubmittedNC_000017.11
NC_000018.10Chr183,6453,646SubmittedNC_000018.10
NC_000019.10Chr194,9524,959SubmittedNC_000019.10
NC_000020.11Chr203,5183,521SubmittedNC_000020.11
NC_000021.9Chr212,7532,757SubmittedNC_000021.9
NC_000022.11Chr222,9812,983SubmittedNC_000022.11
NC_000023.11ChrX6,3076,316SubmittedNC_000023.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr18,4988,508RemappedNC_000001.10
NC_000002.11Chr210,16710,171RemappedNC_000002.11
NC_000003.11Chr36,9786,980RemappedNC_000003.11
NC_000004.11Chr47,7677,774RemappedNC_000004.11
NC_000005.9Chr57,1947,199RemappedNC_000005.9
NC_000006.11Chr67,2047,214RemappedNC_000006.11
NC_000007.13Chr78,2488,252RemappedNC_000007.13
NC_000008.10Chr86,2416,246RemappedNC_000008.10
NC_000009.11Chr95,2015,205RemappedNC_000009.11
NC_000010.10Chr105,9595,967RemappedNC_000010.10
NC_000011.9Chr115,4575,459RemappedNC_000011.9
NC_000012.11Chr125,8625,871RemappedNC_000012.11
NC_000013.10Chr134,2174,222RemappedNC_000013.10
NC_000014.8Chr143,3743,375RemappedNC_000014.8
NC_000015.9Chr153,3423,344RemappedNC_000015.9
NC_000016.9Chr164,7264,729RemappedNC_000016.9
NC_000017.10Chr174,5964,600RemappedNC_000017.10
NC_000018.9Chr183,5983,599RemappedNC_000018.9
NC_000019.9Chr194,7214,728RemappedNC_000019.9
NC_000020.10Chr203,2833,286RemappedNC_000020.10
NC_000021.8Chr212,3842,388RemappedNC_000021.8
NC_000022.10Chr222,6132,615RemappedNC_000022.10
NC_000023.10ChrX6,0586,067RemappedNC_000023.10
NC_000024.9ChrY22RemappedNC_000024.9
NT_113923.1Unplaced|NT_113923.14040RemappedNT_113923.1
NT_167216.1Unplaced|NT_167216.111RemappedNT_167216.1
NT_167222.1Unplaced|NT_167222.199RemappedNT_167222.1
NT_167227.1Unplaced|NT_167227.177RemappedNT_167227.1
NT_113889.1Unplaced|NT_113889.144RemappedNT_113889.1
NT_167214.1Unplaced|NT_167214.13232RemappedNT_167214.1
NT_167213.1Unplaced|NT_167213.111RemappedNT_167213.1
NT_167225.1Unplaced|NT_167225.155RemappedNT_167225.1
NT_167226.1Unplaced|NT_167226.11010RemappedNT_167226.1
NT_167229.1Unplaced|NT_167229.111RemappedNT_167229.1
NT_167211.1Unplaced|NT_167211.12222RemappedNT_167211.1
NT_167223.1Unplaced|NT_167223.122RemappedNT_167223.1
NT_167224.1Unplaced|NT_167224.111RemappedNT_167224.1
NT_167231.1Unplaced|NT_167231.133RemappedNT_167231.1
NT_167233.1Unplaced|NT_167233.12323RemappedNT_167233.1
NT_167237.1Unplaced|NT_167237.144RemappedNT_167237.1
NT_167209.1Unplaced|NT_167209.111RemappedNT_167209.1
NT_167207.1Chr1|NT_167207.199RemappedNT_167207.1
NW_003315903.1Chr1|NW_003315903.12828RemappedNW_003315903.1
NW_003315904.1Chr1|NW_003315904.11313RemappedNW_003315904.1
NW_003571030.1Chr1|NW_003571030.11414RemappedNW_003571030.1
NW_003871055.3Chr1|NW_003871055.3525526RemappedNW_003871055.3
NW_003871056.3Chr1|NW_003871056.35656RemappedNW_003871056.3
NW_003871057.1Chr1|NW_003871057.11818RemappedNW_003871057.1
NW_004070863.1Chr1|NW_004070863.122RemappedNW_004070863.1
NW_004070864.2Chr1|NW_004070864.233RemappedNW_004070864.2
NW_004070865.1Chr1|NW_004070865.155RemappedNW_004070865.1
NW_003571031.1Chr2|NW_003571031.12424RemappedNW_003571031.1
NW_003571032.1Chr2|NW_003571032.199RemappedNW_003571032.1
NW_004504299.1Chr2|NW_004504299.11717RemappedNW_004504299.1
NW_003315910.1Chr3|NW_003315910.122RemappedNW_003315910.1
NW_003315911.1Chr3|NW_003315911.144RemappedNW_003315911.1
NW_003315912.1Chr3|NW_003315912.155RemappedNW_003315912.1
NW_003871058.1Chr3|NW_003871058.11717RemappedNW_003871058.1
NW_003871059.1Chr3|NW_003871059.177RemappedNW_003871059.1
NW_003871060.1Chr3|NW_003871060.11414RemappedNW_003871060.1
NW_004775426.1Chr3|NW_004775426.166RemappedNW_004775426.1
NT_113885.1Chr4|NT_113885.12020RemappedNT_113885.1
NT_113888.1Chr4|NT_113888.111RemappedNT_113888.1
NW_003571034.1Chr4|NW_003571034.15050RemappedNW_003571034.1
NW_003571035.1Chr4|NW_003571035.11819RemappedNW_003571035.1
NW_004775427.1Chr4|NW_004775427.12727RemappedNW_004775427.1
NW_003871061.1Chr5|NW_003871061.133RemappedNW_003871061.1
NW_004775428.1Chr5|NW_004775428.177RemappedNW_004775428.1
NT_167246.1Chr6|NT_167246.177RemappedNT_167246.1
NT_167248.1Chr6|NT_167248.177RemappedNT_167248.1
NT_167249.1Chr6|NT_167249.133RemappedNT_167249.1
NW_003871062.1Chr6|NW_003871062.166RemappedNW_003871062.1
NW_004070866.1Chr6|NW_004070866.12626RemappedNW_004070866.1
NW_004166862.1Chr6|NW_004166862.122RemappedNW_004166862.1
NW_004504300.1Chr6|NW_004504300.12929RemappedNW_004504300.1
NW_004775429.1Chr6|NW_004775429.12424RemappedNW_004775429.1
NT_113901.1Chr7|NT_113901.144RemappedNT_113901.1
NW_003571037.1Chr7|NW_003571037.12222RemappedNW_003571037.1
NW_003571038.1Chr7|NW_003571038.13535RemappedNW_003571038.1
NW_003571039.1Chr7|NW_003571039.13636RemappedNW_003571039.1
NW_003571040.1Chr7|NW_003571040.15959RemappedNW_003571040.1
NW_003571041.1Chr7|NW_003571041.11212RemappedNW_003571041.1
NW_003871064.1Chr7|NW_003871064.1199199RemappedNW_003871064.1
NW_003871065.1Chr7|NW_003871065.11717RemappedNW_003871065.1
NW_004775430.1Chr7|NW_004775430.11515RemappedNW_004775430.1
NW_003315923.1Chr8|NW_003315923.18888RemappedNW_003315923.1
NW_003315924.1Chr8|NW_003315924.14646RemappedNW_003315924.1
NW_003571042.1Chr8|NW_003571042.19090RemappedNW_003571042.1
NW_003871066.2Chr8|NW_003871066.21313RemappedNW_003871066.2
NW_004775431.1Chr8|NW_004775431.122RemappedNW_004775431.1
NT_113914.1Chr9|NT_113914.155RemappedNT_113914.1
NT_113916.2Chr9|NT_113916.27778RemappedNT_113916.2
NW_003315925.1Chr9|NW_003315925.13232RemappedNW_003315925.1
NW_003315926.1Chr9|NW_003315926.11212RemappedNW_003315926.1
NW_003315927.1Chr9|NW_003315927.11414RemappedNW_003315927.1
NW_003871067.1Chr9|NW_003871067.13333RemappedNW_003871067.1
NW_004070867.1Chr9|NW_004070867.11010RemappedNW_004070867.1
NW_004070868.1Chr9|NW_004070868.11818RemappedNW_004070868.1
NW_004070869.1Chr9|NW_004070869.11717RemappedNW_004070869.1
NW_004504301.1Chr9|NW_004504301.11111RemappedNW_004504301.1
NW_003315932.1Chr10|NW_003315932.11818RemappedNW_003315932.1
NW_003315933.1Chr10|NW_003315933.166RemappedNW_003315933.1
NW_003571043.1Chr10|NW_003571043.11111RemappedNW_003571043.1
NW_003871068.1Chr10|NW_003871068.1107107RemappedNW_003871068.1
NW_003871069.1Chr10|NW_003871069.166RemappedNW_003871069.1
NW_003871070.1Chr10|NW_003871070.155RemappedNW_003871070.1
NW_003871071.1Chr10|NW_003871071.14545RemappedNW_003871071.1
NW_004070870.1Chr10|NW_004070870.15959RemappedNW_004070870.1
NW_004504302.1Chr10|NW_004504302.11515RemappedNW_004504302.1
NW_004775432.1Chr10|NW_004775432.11313RemappedNW_004775432.1
NT_113921.2Chr11|NT_113921.244RemappedNT_113921.2
NW_003571045.1Chr11|NW_003571045.155RemappedNW_003571045.1
NW_003571046.1Chr11|NW_003571046.12727RemappedNW_003571046.1
NW_003871072.2Chr11|NW_003871072.21313RemappedNW_003871072.2
NW_003871075.1Chr11|NW_003871075.11616RemappedNW_003871075.1
NW_003871076.1Chr11|NW_003871076.122RemappedNW_003871076.1
NW_003871077.1Chr11|NW_003871077.155RemappedNW_003871077.1
NW_003871078.1Chr11|NW_003871078.177RemappedNW_003871078.1
NW_003871079.1Chr11|NW_003871079.166RemappedNW_003871079.1
NW_003871080.1Chr11|NW_003871080.177RemappedNW_003871080.1
NW_003871081.1Chr11|NW_003871081.177RemappedNW_003871081.1
NW_003871082.1Chr11|NW_003871082.133RemappedNW_003871082.1
NW_004070871.1Chr11|NW_004070871.15959RemappedNW_004070871.1
NW_003315937.1Chr12|NW_003315937.1170170RemappedNW_003315937.1
NW_003571048.1Chr12|NW_003571048.13434RemappedNW_003571048.1
NW_003871083.2Chr12|NW_003871083.21313RemappedNW_003871083.2
NW_004504303.2Chr12|NW_004504303.21717RemappedNW_004504303.2
NW_003571051.1Chr13|NW_003571051.199RemappedNW_003571051.1
NW_004166863.1Chr14|NW_004166863.1202202RemappedNW_004166863.1
NW_003871084.1Chr15|NW_003871084.199RemappedNW_003871084.1
NW_003871085.1Chr16|NW_003871085.144RemappedNW_003871085.1
NT_113930.1Chr17|NT_113930.144RemappedNT_113930.1
NT_113943.1Chr17|NT_113943.155RemappedNT_113943.1
NW_003315947.1Chr17|NW_003315947.12121RemappedNW_003315947.1
NW_003315948.2Chr17|NW_003315948.244RemappedNW_003315948.2
NW_003315949.1Chr17|NW_003315949.11616RemappedNW_003315949.1
NW_003315950.2Chr17|NW_003315950.25757RemappedNW_003315950.2
NW_003315951.1Chr17|NW_003315951.13131RemappedNW_003315951.1
NW_003571052.1Chr17|NW_003571052.11313RemappedNW_003571052.1
NW_003871087.1Chr17|NW_003871087.12424RemappedNW_003871087.1
NW_003871088.1Chr17|NW_003871088.12323RemappedNW_003871088.1
NW_003871089.1Chr17|NW_003871089.14545RemappedNW_003871089.1
NW_003871090.1Chr17|NW_003871090.177RemappedNW_003871090.1
NW_004070872.2Chr17|NW_004070872.2365365RemappedNW_004070872.2
NW_004166864.2Chr17|NW_004166864.244RemappedNW_004166864.2
NW_004775433.1Chr17|NW_004775433.11010RemappedNW_004775433.1
NW_003571053.2Chr19|NW_003571053.24141RemappedNW_003571053.2
NW_003871094.1Chr19|NW_003871094.12727RemappedNW_003871094.1
NW_004166865.1Chr19|NW_004166865.1210210RemappedNW_004166865.1
NW_004775434.1Chr19|NW_004775434.12929RemappedNW_004775434.1
NW_003571063.2Chr20|NW_003571063.22626RemappedNW_003571063.2
NW_003871095.1Chr20|NW_003871095.155RemappedNW_003871095.1
NW_004504304.1Chr20|NW_004504304.12727RemappedNW_004504304.1
NW_003315968.1Chr21|NW_003315968.122RemappedNW_003315968.1
NW_004775435.1Chr21|NW_004775435.14747RemappedNW_004775435.1
NT_113961.1Chr22|NT_113961.199RemappedNT_113961.1
NW_003315972.1Chr22|NW_003315972.155RemappedNW_003315972.1
NW_003871096.1Chr22|NW_003871096.11515RemappedNW_003871096.1
NW_004070873.1Chr22|NW_004070873.155RemappedNW_004070873.1
NW_004070874.1Chr22|NW_004070874.12929RemappedNW_004070874.1
NW_004070875.1Chr22|NW_004070875.12828RemappedNW_004070875.1
NW_004070876.1Chr22|NW_004070876.11414RemappedNW_004070876.1
NT_167212.1Chr22|NT_167212.12727RemappedNT_167212.1
NT_167234.1Chr22|NT_167234.111RemappedNT_167234.1
NT_167235.1Chr22|NT_167235.133RemappedNT_167235.1
NW_003571064.2ChrX|NW_003571064.2205206RemappedNW_003571064.2
NW_003871098.1ChrX|NW_003871098.12525RemappedNW_003871098.1
NW_003871099.1ChrX|NW_003871099.133RemappedNW_003871099.1
NW_003871100.1ChrX|NW_003871100.13737RemappedNW_003871100.1
NW_003871101.3ChrX|NW_003871101.31818RemappedNW_003871101.3
NW_003871102.1ChrX|NW_003871102.111RemappedNW_003871102.1
NW_003871103.3ChrX|NW_003871103.3125125RemappedNW_003871103.3
NW_004070877.1ChrX|NW_004070877.1156156RemappedNW_004070877.1
NW_004070878.1ChrX|NW_004070878.11414RemappedNW_004070878.1
NW_004070879.1ChrX|NW_004070879.11111RemappedNW_004070879.1
NW_004070880.2ChrX|NW_004070880.28080RemappedNW_004070880.2
NW_004070881.1ChrX|NW_004070881.12424RemappedNW_004070881.1
NW_004070882.1ChrX|NW_004070882.11818RemappedNW_004070882.1
NW_004070883.1ChrX|NW_004070883.177RemappedNW_004070883.1
NW_004070884.1ChrX|NW_004070884.166RemappedNW_004070884.1
NW_004070885.1ChrX|NW_004070885.11111RemappedNW_004070885.1
NW_004070886.1ChrX|NW_004070886.12424RemappedNW_004070886.1
NW_004070887.1ChrX|NW_004070887.13030RemappedNW_004070887.1
NW_004070888.1ChrX|NW_004070888.13535RemappedNW_004070888.1
NW_004070889.1ChrX|NW_004070889.13838RemappedNW_004070889.1
NW_004070890.2ChrX|NW_004070890.2206207RemappedNW_004070890.2
NW_004070891.1ChrX|NW_004070891.15454RemappedNW_004070891.1
NW_004070892.1ChrX|NW_004070892.12626RemappedNW_004070892.1
NW_004070893.1ChrX|NW_004070893.111RemappedNW_004070893.1
NW_004166866.1ChrX|NW_004166866.12425RemappedNW_004166866.1

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.11Chr19,0018,58340131162499,0128,5944013116249
NC_000002.12Chr210,39210,04942412134710,39610,053424121347
NC_000003.12Chr37,1256,9133218128347,1276,915321812834
NC_000004.12Chr47,8147,7037338637,8217,709733864
NC_000005.10Chr57,2167,1821023107,2217,187102310
NC_000006.12Chr67,3917,096219177887,4017,10621917788
NC_000007.14Chr78,4667,9624242933278,4707,966424293327
NC_000008.11Chr86,4136,2351722361036,4186,240172236103
NC_000009.12Chr95,3465,1421311631175,3525,147131164117
NC_000010.11Chr106,2825,79930172062306,2905,8073017206230
NC_000011.10Chr115,5745,30111131031465,5765,3031113103146
NC_000012.12Chr126,0065,72324921856,0155,7322492185
NC_000013.11Chr134,3014,259133714,3064,26413371
NC_000014.9Chr143,5303,439131210563,5313,44013121056
NC_000015.10Chr153,3713,3151082993,3733,317108299
NC_000016.10Chr164,7344,61913118744,7374,6221311874
NC_000017.11Chr175,0804,7842317591975,0844,788231759197
NC_000018.10Chr183,6453,589534803,6463,59053480
NC_000019.10Chr194,9524,8401179854,9594,847117985
NC_000020.11Chr203,5183,272128187393,5213,27512818739
NC_000021.9Chr212,7532,3801511300472,7572,384151130047
NC_000022.11Chr222,9812,6925137162392,9832,694513716239
NC_000023.11ChrX6,3075,09619101261,0566,3165,10219101261,059

Samplesets

Number of Samplesets: 1

Size:
405
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 405 samples)
    Sample IDSubject ID Subject Phenotype
    CN109CN109Not reported
    CN041CN041Not reported
    CN002CN002Not reported
    CN100CN100Not reported
    CN076CN076Not reported
    CN045CN045Not reported
    CN103CN103Not reported
    CN028CN028Not reported
    CN118CN118Not reported
    CN019CN019Not reported
    CN075CN075Not reported
    CN008CN008Not reported
    CN074CN074Not reported
    CN096CN096Not reported
    CN108CN108Not reported
    CN094CN094Not reported
    CN115CN115Not reported
    CN104CN104Not reported
    CN087CN087Not reported
    CN032CN032Not reported
    CN122CN122Not reported
    CN106CN106Not reported
    CN033CN033Not reported
    CN089CN089Not reported
    CN114CN114Not reported
    CN066CN066Not reported
    CN014CN014Not reported
    CN005CN005Not reported
    CN119CN119Not reported
    CN090CN090Not reported
    CN099CN099Not reported
    CN083CN083Not reported
    CN072CN072Not reported
    CN007CN007Not reported
    CN044CN044Not reported
    CN067CN067Not reported
    CN018CN018Not reported
    CN009CN009Not reported
    CN117CN117Not reported
    CN071CN071Not reported
    CN010CN010Not reported
    CN065CN065Not reported
    CN077CN077Not reported
    CN003CN003Not reported
    CN107CN107Not reported
    CN121CN121Not reported
    CN081CN081Not reported
    CN101CN101Not reported
    CN113CN113Not reported
    CN086CN086Not reported
    CN043CN043Not reported
    CN123CN123Not reported
    CN051CN051Not reported
    CN061CN061Not reported
    CN078CN078Not reported
    CN053CN053Not reported
    CN017CN017Not reported
    CN120CN120Not reported
    CN112CN112Not reported
    CN080CN080Not reported
    CN006CN006Not reported
    CN073CN073Not reported
    CN085CN085Not reported
    CN042CN042Not reported
    CN110CN110Not reported
    CN004CN004Not reported
    CN016CN016Not reported
    CN050CN050Not reported
    CN062CN062Not reported
    CN069CN069Not reported
    CN015CN015Not reported
    CN079CN079Not reported
    CN063CN063Not reported
    CN012CN012Not reported
    CN097CN097Not reported
    CN091CN091Not reported
    CN001CN001Not reported
    CN088CN088Not reported
    CN111CN111Not reported
    CN011CN011Not reported
    CN058CN058Not reported
    CN070CN070Not reported
    CN116CN116Not reported
    CN046CN046Not reported
    CN037CN037Not reported
    CN098CN098Not reported
    CN068CN068Not reported
    CN038CN038Not reported
    CN039CN039Not reported
    CN084CN084Not reported
    CN124CN124Not reported
    CN092CN092Not reported
    CN022CN022Not reported
    CN105CN105Not reported
    CN093CN093Not reported
    CN095CN095Not reported
    CN082CN082Not reported
    CN102CN102Not reported
    CN013CN013Not reported
    CN047CN047Not reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoverySequencingSequence alignment132,312

    Validations

    No validation data were submitted for this study.

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