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nstd168 (Levy-Sakin et al. 2019)

Organism:
Human
Study Type:
Collection
Submitter:
Claire Yik-Lok Chung
Description:
Large structural variants (SVs) in the human genome are difficult to study by conventional sequencing techniques. By analyzing optical genome maps of 154 individuals from the 26 populations sequenced in the 1000 Genomes Project, we find phylogenetic population patterns of large SVs similar to those of single nucleotide variations in 86% of the human genome, while ~2% of the genome has high structural complexity. The dataset includes SVs in many intractable genomic regions, including segmental duplications and subtelomeric, pericentromeric, and acrocentric areas. Our results highlight the need for a comprehensive set of alternate haplotypes from different populations to represent SV patterns. See Variant Summary counts for nstd168 in dbVar Variant Summary.
Project:
PRJNA418343
Publication(s):
Levy-Sakin et al. 2019
Last updated:
2019-03-14

Detailed Information: Download 16424 Variant Regions, Download 16431 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_000001.11Chr11,3331,333SubmittedNC_000001.11
NC_000002.12Chr21,2641,264SubmittedNC_000002.12
NC_000003.12Chr3977977SubmittedNC_000003.12
NC_000004.12Chr4984984SubmittedNC_000004.12
NC_000005.10Chr5916916SubmittedNC_000005.10
NC_000006.12Chr61,0101,010SubmittedNC_000006.12
NC_000007.14Chr7913913SubmittedNC_000007.14
NC_000008.11Chr8787788SubmittedNC_000008.11
NC_000009.12Chr9735735SubmittedNC_000009.12
NC_000010.11Chr10771772SubmittedNC_000010.11
NC_000011.10Chr11766767SubmittedNC_000011.10
NC_000012.12Chr12856857SubmittedNC_000012.12
NC_000013.11Chr13489490SubmittedNC_000013.11
NC_000014.9Chr14477477SubmittedNC_000014.9
NC_000015.10Chr15501501SubmittedNC_000015.10
NC_000016.10Chr16542542SubmittedNC_000016.10
NC_000017.11Chr17542544SubmittedNC_000017.11
NC_000018.10Chr18385385SubmittedNC_000018.10
NC_000019.10Chr19422422SubmittedNC_000019.10
NC_000020.11Chr20414414SubmittedNC_000020.11
NC_000021.9Chr21262262SubmittedNC_000021.9
NC_000022.11Chr22274274SubmittedNC_000022.11
NC_000023.11ChrX734734SubmittedNC_000023.11
NC_000024.10ChrY9595SubmittedNC_000024.10
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr11,2821,282RemappedNC_000001.10
NC_000002.11Chr21,2561,256RemappedNC_000002.11
NC_000003.11Chr3974974RemappedNC_000003.11
NC_000004.11Chr4984984RemappedNC_000004.11
NC_000005.9Chr5916916RemappedNC_000005.9
NC_000006.11Chr6998998RemappedNC_000006.11
NC_000007.13Chr7899899RemappedNC_000007.13
NC_000008.10Chr8774774RemappedNC_000008.10
NC_000009.11Chr9709709RemappedNC_000009.11
NC_000010.10Chr10730731RemappedNC_000010.10
NC_000011.9Chr11766767RemappedNC_000011.9
NC_000012.11Chr12724725RemappedNC_000012.11
NC_000013.10Chr13484485RemappedNC_000013.10
NC_000014.8Chr14471471RemappedNC_000014.8
NC_000015.9Chr15496496RemappedNC_000015.9
NC_000016.9Chr16540540RemappedNC_000016.9
NC_000017.10Chr17495497RemappedNC_000017.10
NC_000018.9Chr18386386RemappedNC_000018.9
NC_000019.9Chr19404404RemappedNC_000019.9
NC_000020.10Chr20397397RemappedNC_000020.10
NC_000021.8Chr21229229RemappedNC_000021.8
NC_000022.10Chr22253253RemappedNC_000022.10
NC_000023.10ChrX719719RemappedNC_000023.10
NC_000024.9ChrY9696RemappedNC_000024.9
NT_113923.1Unplaced|NT_113923.122RemappedNT_113923.1
NT_167222.1Unplaced|NT_167222.111RemappedNT_167222.1
NT_167214.1Unplaced|NT_167214.166RemappedNT_167214.1
NT_167213.1Unplaced|NT_167213.111RemappedNT_167213.1
NT_167207.1Chr1|NT_167207.177RemappedNT_167207.1
NW_003571030.1Chr1|NW_003571030.144RemappedNW_003571030.1
NW_003871055.3Chr1|NW_003871055.36565RemappedNW_003871055.3
NW_003871056.3Chr1|NW_003871056.32121RemappedNW_003871056.3
NW_003871057.1Chr1|NW_003871057.188RemappedNW_003871057.1
NW_004070865.1Chr1|NW_004070865.111RemappedNW_004070865.1
NW_003571031.1Chr2|NW_003571031.122RemappedNW_003571031.1
NW_003571032.1Chr2|NW_003571032.111RemappedNW_003571032.1
NW_004504299.1Chr2|NW_004504299.144RemappedNW_004504299.1
NW_003315910.1Chr3|NW_003315910.111RemappedNW_003315910.1
NW_003871058.1Chr3|NW_003871058.166RemappedNW_003871058.1
NW_003871059.1Chr3|NW_003871059.111RemappedNW_003871059.1
NW_003871060.1Chr3|NW_003871060.111RemappedNW_003871060.1
NW_004775426.1Chr3|NW_004775426.111RemappedNW_004775426.1
NT_113885.1Chr4|NT_113885.122RemappedNT_113885.1
NW_003315916.1Chr4|NW_003315916.111RemappedNW_003315916.1
NW_003571034.1Chr4|NW_003571034.155RemappedNW_003571034.1
NW_003571035.1Chr4|NW_003571035.133RemappedNW_003571035.1
NW_004775427.1Chr4|NW_004775427.177RemappedNW_004775427.1
NW_003871061.1Chr5|NW_003871061.111RemappedNW_003871061.1
NW_004775428.1Chr5|NW_004775428.122RemappedNW_004775428.1
NW_003871062.1Chr6|NW_003871062.111RemappedNW_003871062.1
NW_004070866.1Chr6|NW_004070866.144RemappedNW_004070866.1
NW_004504300.1Chr6|NW_004504300.144RemappedNW_004504300.1
NW_004775429.1Chr6|NW_004775429.122RemappedNW_004775429.1
NT_113901.1Chr7|NT_113901.144RemappedNT_113901.1
NW_003571038.1Chr7|NW_003571038.111RemappedNW_003571038.1
NW_003571039.1Chr7|NW_003571039.166RemappedNW_003571039.1
NW_003571040.1Chr7|NW_003571040.177RemappedNW_003571040.1
NW_003571041.1Chr7|NW_003571041.111RemappedNW_003571041.1
NW_003871064.1Chr7|NW_003871064.13838RemappedNW_003871064.1
NW_003871065.1Chr7|NW_003871065.133RemappedNW_003871065.1
NW_004775430.1Chr7|NW_004775430.133RemappedNW_004775430.1
NW_003315923.1Chr8|NW_003315923.167RemappedNW_003315923.1
NW_003315924.1Chr8|NW_003315924.144RemappedNW_003315924.1
NW_003571042.1Chr8|NW_003571042.188RemappedNW_003571042.1
NW_003871066.2Chr8|NW_003871066.211RemappedNW_003871066.2
NW_004775431.1Chr8|NW_004775431.111RemappedNW_004775431.1
NT_113915.1Chr9|NT_113915.122RemappedNT_113915.1
NW_003315925.1Chr9|NW_003315925.155RemappedNW_003315925.1
NW_003315926.1Chr9|NW_003315926.111RemappedNW_003315926.1
NW_003871067.1Chr9|NW_003871067.166RemappedNW_003871067.1
NW_004070868.1Chr9|NW_004070868.133RemappedNW_004070868.1
NW_004070869.1Chr9|NW_004070869.111RemappedNW_004070869.1
NW_003315932.1Chr10|NW_003315932.144RemappedNW_003315932.1
NW_003315933.1Chr10|NW_003315933.111RemappedNW_003315933.1
NW_003571043.1Chr10|NW_003571043.111RemappedNW_003571043.1
NW_003871068.1Chr10|NW_003871068.12626RemappedNW_003871068.1
NW_003871071.1Chr10|NW_003871071.199RemappedNW_003871071.1
NW_004070870.1Chr10|NW_004070870.111RemappedNW_004070870.1
NW_004504302.1Chr10|NW_004504302.111RemappedNW_004504302.1
NW_004775432.1Chr10|NW_004775432.177RemappedNW_004775432.1
NW_003571045.1Chr11|NW_003571045.122RemappedNW_003571045.1
NW_003571046.1Chr11|NW_003571046.111RemappedNW_003571046.1
NW_003871072.2Chr11|NW_003871072.222RemappedNW_003871072.2
NW_003871075.1Chr11|NW_003871075.133RemappedNW_003871075.1
NW_003871076.1Chr11|NW_003871076.111RemappedNW_003871076.1
NW_003871078.1Chr11|NW_003871078.133RemappedNW_003871078.1
NW_003871079.1Chr11|NW_003871079.111RemappedNW_003871079.1
NW_003871081.1Chr11|NW_003871081.133RemappedNW_003871081.1
NW_003871082.1Chr11|NW_003871082.111RemappedNW_003871082.1
NW_004070871.1Chr11|NW_004070871.144RemappedNW_004070871.1
NW_003315937.1Chr12|NW_003315937.122RemappedNW_003315937.1
NW_003571048.1Chr12|NW_003571048.122RemappedNW_003571048.1
NW_003871083.2Chr12|NW_003871083.244RemappedNW_003871083.2
NW_004504303.2Chr12|NW_004504303.222RemappedNW_004504303.2
NW_004166863.1Chr14|NW_004166863.11010RemappedNW_004166863.1
NW_003871084.1Chr15|NW_003871084.122RemappedNW_003871084.1
NW_003871085.1Chr16|NW_003871085.111RemappedNW_003871085.1
NT_113930.1Chr17|NT_113930.133RemappedNT_113930.1
NW_003315949.1Chr17|NW_003315949.199RemappedNW_003315949.1
NW_003315950.2Chr17|NW_003315950.277RemappedNW_003315950.2
NW_003571052.1Chr17|NW_003571052.122RemappedNW_003571052.1
NW_003871088.1Chr17|NW_003871088.133RemappedNW_003871088.1
NW_003871089.1Chr17|NW_003871089.155RemappedNW_003871089.1
NW_003871090.1Chr17|NW_003871090.122RemappedNW_003871090.1
NW_004070872.2Chr17|NW_004070872.277RemappedNW_004070872.2
NW_004166864.2Chr17|NW_004166864.211RemappedNW_004166864.2
NW_003571053.2Chr19|NW_003571053.266RemappedNW_003571053.2
NW_003871094.1Chr19|NW_003871094.144RemappedNW_003871094.1
NW_004166865.1Chr19|NW_004166865.11717RemappedNW_004166865.1
NW_004775434.1Chr19|NW_004775434.155RemappedNW_004775434.1
NW_003571063.2Chr20|NW_003571063.244RemappedNW_003571063.2
NW_003871095.1Chr20|NW_003871095.111RemappedNW_003871095.1
NW_004504304.1Chr20|NW_004504304.122RemappedNW_004504304.1
NW_003315968.1Chr21|NW_003315968.111RemappedNW_003315968.1
NW_004775435.1Chr21|NW_004775435.111RemappedNW_004775435.1
NT_113961.1Chr22|NT_113961.133RemappedNT_113961.1
NW_003871096.1Chr22|NW_003871096.111RemappedNW_003871096.1
NT_167212.1Chr22|NT_167212.111RemappedNT_167212.1
NW_003571064.2ChrX|NW_003571064.233RemappedNW_003571064.2
NW_003871098.1ChrX|NW_003871098.133RemappedNW_003871098.1
NW_003871099.1ChrX|NW_003871099.133RemappedNW_003871099.1
NW_003871100.1ChrX|NW_003871100.177RemappedNW_003871100.1
NW_003871101.3ChrX|NW_003871101.322RemappedNW_003871101.3
NW_003871103.3ChrX|NW_003871103.34343RemappedNW_003871103.3
NW_004070877.1ChrX|NW_004070877.12828RemappedNW_004070877.1
NW_004070878.1ChrX|NW_004070878.122RemappedNW_004070878.1
NW_004070880.2ChrX|NW_004070880.21515RemappedNW_004070880.2
NW_004070881.1ChrX|NW_004070881.199RemappedNW_004070881.1
NW_004070882.1ChrX|NW_004070882.199RemappedNW_004070882.1
NW_004070883.1ChrX|NW_004070883.111RemappedNW_004070883.1
NW_004070884.1ChrX|NW_004070884.111RemappedNW_004070884.1
NW_004070885.1ChrX|NW_004070885.155RemappedNW_004070885.1
NW_004070886.1ChrX|NW_004070886.166RemappedNW_004070886.1
NW_004070887.1ChrX|NW_004070887.11010RemappedNW_004070887.1
NW_004070888.1ChrX|NW_004070888.199RemappedNW_004070888.1
NW_004070889.1ChrX|NW_004070889.155RemappedNW_004070889.1
NW_004070890.2ChrX|NW_004070890.23636RemappedNW_004070890.2
NW_004070891.1ChrX|NW_004070891.144RemappedNW_004070891.1
NW_004070892.1ChrX|NW_004070892.155RemappedNW_004070892.1
NW_004166866.1ChrX|NW_004166866.133RemappedNW_004166866.1

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.11Chr11,3331,21930213861,3331,2193021386
NC_000002.12Chr21,2641,1913623781,2641,191362378
NC_000003.12Chr3977934218215977934218215
NC_000004.12Chr4984951182014984951182014
NC_000005.10Chr59168949112191689491121
NC_000006.12Chr61,010958201010141,01095820101014
NC_000007.14Chr791381936130479138193613047
NC_000008.11Chr878773225144137887332514413
NC_000009.12Chr973567062518207356706251820
NC_000010.11Chr107716911214213777269112152137
NC_000011.10Chr11766715226222767716226222
NC_000012.12Chr1285670832132128577093213212
NC_000013.11Chr134894668113249046681232
NC_000014.9Chr14477441141426477441141426
NC_000015.10Chr15501471126514501471126514
NC_000016.10Chr16542515118214542515118214
NC_000017.11Chr175424612021251754446320212517
NC_000018.10Chr183853701050038537010500
NC_000019.10Chr19422383196014422383196014
NC_000020.11Chr20414366216147414366216147
NC_000021.9Chr212621893914131126218939141311
NC_000022.11Chr2227420533181472742053318147
NC_000023.11ChrX73450319752017345031975201
NC_000024.10ChrY9587520295875202

Samplesets

Number of Samplesets: 1

Description:
154 unrelated individuals in 26 populations in the 1000 Genome Project
Size:
154
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 154 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    SAMN00780011HG02687MalePJLNot reported
    SAMN00249869HG01757FemaleIBSNot reported
    SAMN00006466HG00513FemaleCHSNot reported
    SAMN00779955HG02595FemaleGWDNot reported
    SAMN00249889HG00851FemaleCDXNot reported
    SAMN00009107HG00329MaleFINNot reported
    SAMN01036849HG00623FemaleCHSNot reported
    SAMN00780012HG02688FemalePJLNot reported
    SAMN01090936HG03615MaleBEBNot reported
    SAMN00006405HG00353FemaleFINNot reported
    SAMN00779997HG02604FemalePJLNot reported
    SAMN00630208HG02107MaleACBNot reported
    SAMN01036848HG00622MaleCHSNot reported
    SAMN01036819HG03132FemaleESNNot reported
    SAMN00249924HG01816MaleCDXNot reported
    SAMN00006580HG00732FemalePURNot reported
    SAMN01090940HG03797MaleBEBNot reported
    SAMN00006374HG00270FemaleFINNot reported
    SAMN01090934HG03007FemaleBEBNot reported
    SAMN00006375HG00271MaleFINNot reported
    SAMN00630217HG02283MaleACBNot reported
    SAMN00009156HG01133MaleCLMNot reported
    SAMN01091013HG03727MaleITUNot reported
    SAMN00255136HG01783MaleIBSNot reported
    SAMN01090982HG03740MaleSTUNot reported
    SAMN00009157HG01134FemaleCLMNot reported
    SAMN00006365HG00261FemaleGBRNot reported
    SAMN00249781HG02025FemaleKHVNot reported
    SAMN00249780HG02026MaleKHVNot reported
    SAMN01091010HG03722FemaleITUNot reported
    SAMN00006820HG00734FemalePURNot reported
    SAMN01036816HG03123FemaleESNNot reported
    SAMN01090933HG03006MaleBEBNot reported
    SAMN00006465HG00512MaleCHSNot reported
    SAMN00630274HG02522FemaleKHVNot reported
    SAMN01036707HG02635FemaleGWDNot reported
    SAMN01036728HG02811FemaleGWDNot reported
    SAMN00006445HG00428FemaleCHSNot reported
    SAMN00006583HG00737FemalePURNot reported
    SAMN00249868HG01756MaleIBSNot reported
    SAMN00009162HG01139MaleCLMNot reported
    SAMN00004627HG00101MaleGBRNot reported
    SAMN01090974HG03682MaleSTUNot reported
    SAMN00009091HG00250FemaleGBRNot reported
    SAMN00779990HG02490MalePJLNot reported
    SAMN01036785HG03097FemaleMSLNot reported
    SAMN01036792HG03469MaleMSLNot reported
    SAMN00249848HG01874FemaleKHVNot reported
    SAMN01090941HG03796FemaleBEBNot reported
    SAMN00249726HG01974MalePELNot reported
    SAMN00009168HG01167MalePURNot reported
    SAMN00006579HG00731MalePURNot reported
    SAMN00249727HG01973FemalePELNot reported
    SAMN00009092HG00251MaleGBRNot reported
    SAMN01091009HG03725MaleITUNot reported
    SAMN01036818HG03133MaleESNNot reported
    SAMN00630218HG02309FemaleACBNot reported
    SAMN00006364HG00260MaleGBRNot reported
    SAMN00249723HG01970MalePELNot reported
    SAMN00009163HG01140FemaleCLMNot reported
    SAMN00630209HG02108FemaleACBNot reported
    SAMN01036809HG03115MaleESNNot reported
    SAMN01091014HG03721FemaleITUNot reported
    SAMN00779991HG02491FemalePJLNot reported
    SAMN00249735HG01991MalePELNot reported
    SAMN01090937HG03616FemaleBEBNot reported
    SAMN01090768HG03470FemaleMSLNot reported
    SAMN00249724HG01971FemalePELNot reported
    SAMN00263032HG02250MaleCDXNot reported
    SAMN00004626HG00100FemaleGBRNot reported
    SAMN00255137HG01784FemaleIBSNot reported
    SAMN00779996HG02603MalePJLNot reported
    SAMN01090975HG03684FemaleSTUNot reported
    SAMN01036789HG03452FemaleMSLNot reported
    SAMN00009108HG00330FemaleFINNot reported
    SAMN01036810HG03114FemaleESNNot reported
    SAMN00006453HG00472MaleCHSNot reported
    SAMN01036788HG03451MaleMSLNot reported
    SAMN01096789HG03863FemaleITUNot reported
    SAMN00630206HG02095FemaleACBNot reported
    SAMN01036815HG03124MaleESNNot reported
    SAMN00014344HG01464MaleCLMNot reported
    SAMN00249888HG00844MaleCDXNot reported
    SAMN00779954HG02594MaleGWDNot reported
    SAMN00014345HG01465FemaleCLMNot reported
    SAMN00249872HG01762FemaleIBSNot reported
    SAMN00779963HG02623MaleGWDNot reported
    SAMN00630207HG02332MaleACBNot reported
    SAMN01090983HG03741FemaleSTUNot reported
    SAMN00249892HG00867FemaleCDXNot reported
    SAMN00249871HG01761MaleIBSNot reported
    SAMN00249917HG01809FemaleCDXNot reported
    SAMN01036784HG03096MaleMSLNot reported
    SAMN00630273HG02521MaleKHVNot reported
    SAMN00006404HG00351MaleFINNot reported
    SAMN00009177HG01176MalePURNot reported
    SAMN00249736HG01992FemalePELNot reported
    SAMN00249847HG01873MaleKHVNot reported
    SAMN01090994HG03838FemaleSTUNot reported
    SAMN01036727HG02810MaleGWDNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoveryOptical mappingOptical mapping16,431

    Validations

    No validation data were submitted for this study.

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