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nstd171 (Wong et al. 2019)

Organism:
Human
Study Type:
Collection
Submitter:
Akihiro Fujimoto
Description:
Intermediate-sized deletions (30bp-5kbp) were identified from whole-genome sequencing data of a Japanese population using a two-stage identification process. Detected intermediate-sized deletions underwent stringent filtering and accuracy of the deletion calls were checked using data from Oxford Nanopore long-read sequencers. See Variant Summary counts for nstd171 in dbVar Variant Summary.
Project:
PRJDB8421
Publication(s):
Wong et al. 2019

Detailed Information: Download 4378 Variant Regions, Download 4378 Variant Calls, Download Both, FTP

Variant Summary

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

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr1320320RemappedNC_000001.11
NC_000002.12Chr2371371RemappedNC_000002.12
NC_000003.12Chr3311311RemappedNC_000003.12
NC_000004.12Chr4353353RemappedNC_000004.12
NC_000005.10Chr5285285RemappedNC_000005.10
NC_000006.12Chr6299299RemappedNC_000006.12
NC_000007.14Chr7285285RemappedNC_000007.14
NC_000008.11Chr8216216RemappedNC_000008.11
NC_000009.12Chr9184184RemappedNC_000009.12
NC_000010.11Chr10220220RemappedNC_000010.11
NC_000011.10Chr11220220RemappedNC_000011.10
NC_000012.12Chr12214214RemappedNC_000012.12
NC_000013.11Chr13175175RemappedNC_000013.11
NC_000014.9Chr14139139RemappedNC_000014.9
NC_000015.10Chr15118118RemappedNC_000015.10
NC_000016.10Chr16104104RemappedNC_000016.10
NC_000017.11Chr17108108RemappedNC_000017.11
NC_000018.10Chr18143143RemappedNC_000018.10
NC_000019.10Chr198686RemappedNC_000019.10
NC_000020.11Chr208787RemappedNC_000020.11
NC_000021.9Chr216666RemappedNC_000021.9
NC_000022.11Chr225959RemappedNC_000022.11
NT_187521.1Chr1|NT_187521.111RemappedNT_187521.1
NW_009646194.1Chr1|NW_009646194.111RemappedNW_009646194.1
NW_012132914.1Chr1|NW_012132914.111RemappedNW_012132914.1
NW_014040926.1Chr1|NW_014040926.111RemappedNW_014040926.1
NW_018654707.1Chr1|NW_018654707.111RemappedNW_018654707.1
NW_011332689.1Chr2|NW_011332689.111RemappedNW_011332689.1
NW_011332690.1Chr2|NW_011332690.111RemappedNW_011332690.1
NW_015495299.1Chr2|NW_015495299.133RemappedNW_015495299.1
NW_011332691.1Chr3|NW_011332691.111RemappedNW_011332691.1
NT_187679.1Chr4|NT_187679.144RemappedNT_187679.1
NT_113793.3Chr4|NT_113793.311RemappedNT_113793.3
NT_187543.1Chr4|NT_187543.111RemappedNT_187543.1
NT_187545.1Chr4|NT_187545.111RemappedNT_187545.1
NT_187650.1Chr4|NT_187650.111RemappedNT_187650.1
NW_003315915.1Chr4|NW_003315915.111RemappedNW_003315915.1
NW_013171800.1Chr4|NW_013171800.111RemappedNW_013171800.1
NW_013171801.1Chr4|NW_013171801.111RemappedNW_013171801.1
NW_017363814.1Chr4|NW_017363814.111RemappedNW_017363814.1
NT_187549.1Chr5|NT_187549.111RemappedNT_187549.1
NT_187651.1Chr5|NT_187651.111RemappedNT_187651.1
NW_003315917.2Chr5|NW_003315917.211RemappedNW_003315917.2
NW_016107297.1Chr5|NW_016107297.122RemappedNW_016107297.1
NW_016107298.1Chr5|NW_016107298.111RemappedNW_016107298.1
NT_187555.1Chr6|NT_187555.133RemappedNT_187555.1
NW_009646200.1Chr6|NW_009646200.111RemappedNW_009646200.1
NW_018654713.1Chr6|NW_018654713.111RemappedNW_018654713.1
NT_187558.1Chr7|NT_187558.133RemappedNT_187558.1
NT_187561.1Chr7|NT_187561.111RemappedNT_187561.1
NT_187653.1Chr7|NT_187653.133RemappedNT_187653.1
NW_012132919.1Chr7|NW_012132919.111RemappedNW_012132919.1
NW_017852930.1Chr7|NW_017852930.111RemappedNW_017852930.1
NT_187680.1Chr8|NT_187680.111RemappedNT_187680.1
NT_187567.1Chr8|NT_187567.111RemappedNT_187567.1
NT_187568.1Chr8|NT_187568.111RemappedNT_187568.1
NT_187571.1Chr8|NT_187571.111RemappedNT_187571.1
NT_187574.1Chr8|NT_187574.111RemappedNT_187574.1
NT_187576.1Chr8|NT_187576.111RemappedNT_187576.1
NW_018654717.1Chr8|NW_018654717.166RemappedNW_018654717.1
NT_187579.1Chr10|NT_187579.111RemappedNT_187579.1
NW_003315935.1Chr10|NW_003315935.111RemappedNW_003315935.1
NW_013171806.1Chr10|NW_013171806.122RemappedNW_013171806.1
NT_187581.1Chr11|NT_187581.111RemappedNT_187581.1
NT_187583.1Chr11|NT_187583.111RemappedNT_187583.1
NW_003871074.1Chr11|NW_003871074.111RemappedNW_003871074.1
NW_011332695.1Chr11|NW_011332695.111RemappedNW_011332695.1
NW_019805495.1Chr11|NW_019805495.111RemappedNW_019805495.1
NW_019805497.1Chr11|NW_019805497.111RemappedNW_019805497.1
NT_187658.1Chr12|NT_187658.111RemappedNT_187658.1
NW_003315940.1Chr12|NW_003315940.111RemappedNW_003315940.1
NW_003315941.1Chr12|NW_003315941.111RemappedNW_003315941.1
NW_003571050.1Chr12|NW_003571050.111RemappedNW_003571050.1
NW_009646204.1Chr12|NW_009646204.111RemappedNW_009646204.1
NW_011332696.1Chr12|NW_011332696.111RemappedNW_011332696.1
NW_018654720.1Chr12|NW_018654720.111RemappedNW_018654720.1
NW_019805499.1Chr12|NW_019805499.111RemappedNW_019805499.1
NT_187592.1Chr13|NT_187592.111RemappedNT_187592.1
NT_187593.1Chr13|NT_187593.111RemappedNT_187593.1
NW_011332700.1Chr13|NW_011332700.111RemappedNW_011332700.1
NW_013171810.1Chr13|NW_013171810.111RemappedNW_013171810.1
NW_013171811.1Chr13|NW_013171811.122RemappedNW_013171811.1
NT_113796.3Chr14|NT_113796.311RemappedNT_113796.3
NT_187600.1Chr14|NT_187600.133RemappedNT_187600.1
NT_187660.1Chr15|NT_187660.122RemappedNT_187660.1
NT_187606.1Chr15|NT_187606.111RemappedNT_187606.1
NW_003315944.2Chr15|NW_003315944.211RemappedNW_003315944.2
NW_011332701.1Chr15|NW_011332701.122RemappedNW_011332701.1
NT_187607.1Chr16|NT_187607.122RemappedNT_187607.1
NW_003315945.1Chr16|NW_003315945.111RemappedNW_003315945.1
NW_017852933.1Chr16|NW_017852933.111RemappedNW_017852933.1
NW_019805500.1Chr16|NW_019805500.122RemappedNW_019805500.1
NT_187664.1Chr17|NT_187664.111RemappedNT_187664.1
NW_003871093.1Chr17|NW_003871093.111RemappedNW_003871093.1
NT_187612.1Chr17|NT_187612.122RemappedNT_187612.1
NT_187613.1Chr17|NT_187613.111RemappedNT_187613.1
NT_187614.1Chr17|NT_187614.144RemappedNT_187614.1
NW_003315955.1Chr17|NW_003315955.111RemappedNW_003315955.1
NW_003871092.1Chr17|NW_003871092.111RemappedNW_003871092.1
NW_017363817.1Chr17|NW_017363817.111RemappedNW_017363817.1
NW_017363818.1Chr17|NW_017363818.111RemappedNW_017363818.1
NW_017363819.1Chr17|NW_017363819.111RemappedNW_017363819.1
NT_187617.1Chr18|NT_187617.111RemappedNT_187617.1
NW_003315956.1Chr18|NW_003315956.122RemappedNW_003315956.1
NW_013171814.1Chr18|NW_013171814.122RemappedNW_013171814.1
NW_019805503.1Chr18|NW_019805503.111RemappedNW_019805503.1
NT_187693.1Chr19|NT_187693.122RemappedNT_187693.1
NW_003315963.1Chr19|NW_003315963.111RemappedNW_003315963.1
NW_009646206.1Chr19|NW_009646206.111RemappedNW_009646206.1
NT_187623.1Chr20|NT_187623.111RemappedNT_187623.1
NT_187628.1Chr21|NT_187628.111RemappedNT_187628.1
NW_003315972.2Chr22|NW_003315972.211RemappedNW_003315972.2
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr1324324SubmittedNC_000001.10
NC_000002.11Chr2371371SubmittedNC_000002.11
NC_000003.11Chr3311311SubmittedNC_000003.11
NC_000004.11Chr4353353SubmittedNC_000004.11
NC_000005.9Chr5285285SubmittedNC_000005.9
NC_000006.11Chr6299299SubmittedNC_000006.11
NC_000007.13Chr7285285SubmittedNC_000007.13
NC_000008.10Chr8217217SubmittedNC_000008.10
NC_000009.11Chr9185185SubmittedNC_000009.11
NC_000010.10Chr10221221SubmittedNC_000010.10
NC_000011.9Chr11221221SubmittedNC_000011.9
NC_000012.11Chr12215215SubmittedNC_000012.11
NC_000013.10Chr13175175SubmittedNC_000013.10
NC_000014.8Chr14140140SubmittedNC_000014.8
NC_000015.9Chr15118118SubmittedNC_000015.9
NC_000016.9Chr16104104SubmittedNC_000016.9
NC_000017.10Chr17109109SubmittedNC_000017.10
NC_000018.9Chr18143143SubmittedNC_000018.9
NC_000019.9Chr198888SubmittedNC_000019.9
NC_000020.10Chr208787SubmittedNC_000020.10
NC_000021.8Chr216666SubmittedNC_000021.8
NC_000022.10Chr226161SubmittedNC_000022.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr132431610253243161025
NC_000002.11Chr237136510053713651005
NC_000003.11Chr331131000013113100001
NC_000004.11Chr435334400093533440009
NC_000005.9Chr528528000052852800005
NC_000006.11Chr629929310052992931005
NC_000007.13Chr728527900062852790006
NC_000008.10Chr82172060001121720600011
NC_000009.11Chr918518400101851840010
NC_000010.10Chr1022121600142212160014
NC_000011.9Chr1122121500152212150015
NC_000012.11Chr1221520600182152060018
NC_000013.10Chr1317516900061751690006
NC_000014.8Chr1414013510131401351013
NC_000015.9Chr1511811400041181140004
NC_000016.9Chr16104980006104980006
NC_000017.10Chr1710997100111099710011
NC_000018.9Chr1814313700061431370006
NC_000019.9Chr198885100288851002
NC_000020.10Chr208786000187860001
NC_000021.8Chr216665000166650001
NC_000022.10Chr226158002161580021

Samplesets

Number of Samplesets: 1

Size:
174
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 174 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    SAMD00174272RK182MaleJapaneseNot reported
    SAMD00174233RK113MaleJapaneseNot reported
    SAMD00174200RK049MaleJapaneseNot reported
    SAMD00174265RK169MaleJapaneseNot reported
    SAMD00174209RK059MaleJapaneseNot reported
    SAMD00174257RK155FemaleJapaneseNot reported
    SAMD00174255RK153MaleJapaneseNot reported
    SAMD00174270RK178FemaleJapaneseNot reported
    SAMD00174211RK063FemaleJapaneseNot reported
    SAMD00174232RK106FemaleJapaneseNot reported
    SAMD00174271RK181MaleJapaneseNot reported
    SAMD00174247RK137FemaleJapaneseNot reported
    SAMD00174228RK102MaleJapaneseNot reported
    SAMD00174362RK027MaleJapaneseNot reported
    SAMD00174269RK177MaleJapaneseNot reported
    SAMD00174357RK020MaleJapaneseNot reported
    SAMD00174248RK142MaleJapaneseNot reported
    SAMD00174244RK133MaleJapaneseNot reported
    SAMD00174358RK021MaleJapaneseNot reported
    SAMD00174243RK131MaleJapaneseNot reported
    SAMD00174197RK041MaleJapaneseNot reported
    SAMD00174234RK115FemaleJapaneseNot reported
    SAMD00174207RK057MaleJapaneseNot reported
    SAMD00174216RK071FemaleJapaneseNot reported
    SAMD00174354RK014MaleJapaneseNot reported
    SAMD00174254RK152MaleJapaneseNot reported
    SAMD00174242RK130MaleJapaneseNot reported
    SAMD00174189RK028FemaleJapaneseNot reported
    SAMD00174361RK026MaleJapaneseNot reported
    SAMD00174223RK088MaleJapaneseNot reported
    SAMD00174219RK076MaleJapaneseNot reported
    SAMD00174249RK143MaleJapaneseNot reported
    SAMD00174260RK159MaleJapaneseNot reported
    SAMD00174356RK018MaleJapaneseNot reported
    SAMD00174350RK004MaleJapaneseNot reported
    SAMD00174231RK105MaleJapaneseNot reported
    SAMD00174190RK029MaleJapaneseNot reported
    SAMD00174355RK016FemaleJapaneseNot reported
    SAMD00174202RK052MaleJapaneseNot reported
    SAMD00174195RK037MaleJapaneseNot reported
    SAMD00174218RK075MaleJapaneseNot reported
    SAMD00174236RK120MaleJapaneseNot reported
    SAMD00174263RK166MaleJapaneseNot reported
    SAMD00174252RK148MaleJapaneseNot reported
    SAMD00174203RK053MaleJapaneseNot reported
    SAMD00174230RK104MaleJapaneseNot reported
    SAMD00174225RK095FemaleJapaneseNot reported
    SAMD00174262RK165MaleJapaneseNot reported
    SAMD00174348RK001MaleJapaneseNot reported
    SAMD00174191RK032MaleJapaneseNot reported
    SAMD00174264RK167MaleJapaneseNot reported
    SAMD00174213RK066FemaleJapaneseNot reported
    SAMD00174359RK022FemaleJapaneseNot reported
    SAMD00174206RK056MaleJapaneseNot reported
    SAMD00174229RK103MaleJapaneseNot reported
    SAMD00174246RK136MaleJapaneseNot reported
    SAMD00174193RK034MaleJapaneseNot reported
    SAMD00174235RK119FemaleJapaneseNot reported
    SAMD00174253RK150MaleJapaneseNot reported
    SAMD00174238RK122MaleJapaneseNot reported
    SAMD00174205RK055MaleJapaneseNot reported
    SAMD00174220RK077MaleJapaneseNot reported
    SAMD00174227RK098FemaleJapaneseNot reported
    SAMD00174353RK012MaleJapaneseNot reported
    SAMD00174237RK121FemaleJapaneseNot reported
    SAMD00174349RK002MaleJapaneseNot reported
    SAMD00174268RK176MaleJapaneseNot reported
    SAMD00174215RK068FemaleJapaneseNot reported
    SAMD00174266RK171FemaleJapaneseNot reported
    SAMD00174256RK154MaleJapaneseNot reported
    SAMD00174352RK010MaleJapaneseNot reported
    SAMD00174261RK164MaleJapaneseNot reported
    SAMD00174208RK058MaleJapaneseNot reported
    SAMD00174210RK062MaleJapaneseNot reported
    SAMD00174194RK036MaleJapaneseNot reported
    SAMD00174222RK086MaleJapaneseNot reported
    SAMD00174258RK156MaleJapaneseNot reported
    SAMD00174212RK065FemaleJapaneseNot reported
    SAMD00174267RK172FemaleJapaneseNot reported
    SAMD00174240RK126MaleJapaneseNot reported
    SAMD00174224RK093MaleJapaneseNot reported
    SAMD00174250RK144FemaleJapaneseNot reported
    SAMD00174245RK135FemaleJapaneseNot reported
    SAMD00174251RK145MaleJapaneseNot reported
    SAMD00174360RK024MaleJapaneseNot reported
    SAMD00174199RK048MaleJapaneseNot reported
    SAMD00174226RK096MaleJapaneseNot reported
    SAMD00174217RK073MaleJapaneseNot reported
    SAMD00174198RK043MaleJapaneseNot reported
    SAMD00174204RK054MaleJapaneseNot reported
    SAMD00174214RK067MaleJapaneseNot reported
    SAMD00174192RK033MaleJapaneseNot reported
    SAMD00174351RK007MaleJapaneseNot reported
    SAMD00174201RK051MaleJapaneseNot reported
    SAMD00174196RK038FemaleJapaneseNot reported
    SAMD00174221RK079MaleJapaneseNot reported
    SAMD00174273RK183MaleJapaneseNot reported
    SAMD00174259RK157MaleJapaneseNot reported
    SAMD00174241RK128MaleJapaneseNot reported
    SAMD00174239RK124MaleJapaneseNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoverySequencingSequence alignmentIllumina Genome Analyzer II and Illumina HiSeq 20000
    2DiscoverySequencingSplit read and paired-end mappingIllumina Genome Analyzer II and Illumina HiSeq 20000
    3DiscoveryMerging of experiments 1,2Merging of experiments 1,2See merged experiments4,378

    Validations

    No validation data were submitted for this study.

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