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nstd215 (Prakrithi et al. 2022)

Organism:
Human
Study Type:
Control Set
Submitter:
Khushboo Singhal
Description:
Actively retrotransposing primate-specific Alu repeats display insertion-deletion (InDel) polymorphism through their insertion at new loci. In the global datasets, Indian populations remain underrepresented and so do their Alu InDels. Here, we report the genomic landscape of Alu InDels from the recently released 1,021 Indian Genomes (IndiGen) (Available at [https://clingen.igib.res.in/indigen]). We identified 22,098 polymorphic Alu insertions using the MELT-SPLIT pipeline. We analysed the 9,239 polymorphic Alu insertions after stringent QC filters that include private (3,831), rare (3,974), and common (1,434) insertions with an average of 770 insertions per individual. See Variant Summary counts for nstd215 in dbVar Variant Summary.
Publication(s):
Prakrithi et al. 2022

Detailed Information: Download 21981 Variant Regions, Download 21981 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Submitted: GRCh38.p9 (hg38)
Remapped: GRCh37.p13 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr11,7061,706SubmittedNC_000001.11
NC_000002.12Chr21,8921,892SubmittedNC_000002.12
NC_000003.12Chr31,6111,611SubmittedNC_000003.12
NC_000004.12Chr41,5631,563SubmittedNC_000004.12
NC_000005.10Chr51,4881,488SubmittedNC_000005.10
NC_000006.12Chr61,4551,455SubmittedNC_000006.12
NC_000007.14Chr71,2351,235SubmittedNC_000007.14
NC_000008.11Chr81,1381,138SubmittedNC_000008.11
NC_000009.12Chr9890890SubmittedNC_000009.12
NC_000010.11Chr101,0021,002SubmittedNC_000010.11
NC_000011.10Chr11985985SubmittedNC_000011.10
NC_000012.12Chr121,0341,034SubmittedNC_000012.12
NC_000013.11Chr13905905SubmittedNC_000013.11
NC_000014.9Chr14707707SubmittedNC_000014.9
NC_000015.10Chr15649649SubmittedNC_000015.10
NC_000016.10Chr16509509SubmittedNC_000016.10
NC_000017.11Chr17552552SubmittedNC_000017.11
NC_000018.10Chr18623623SubmittedNC_000018.10
NC_000019.10Chr19346346SubmittedNC_000019.10
NC_000020.11Chr20406406SubmittedNC_000020.11
NC_000021.9Chr21307307SubmittedNC_000021.9
NC_000022.11Chr22244244SubmittedNC_000022.11
NC_000023.11ChrX682682SubmittedNC_000023.11
NC_000024.10ChrY4141SubmittedNC_000024.10
KI270905.1Chr15|KI270905.111SubmittedKI270905.1
GL000253.2Chr6|GL000253.211SubmittedGL000253.2
GL000254.2Chr6|GL000254.222SubmittedGL000254.2
GL000255.2Chr6|GL000255.222SubmittedGL000255.2
GL000252.2Chr6|GL000252.211SubmittedGL000252.2
GL000251.2Chr6|GL000251.211SubmittedGL000251.2
KI270846.1Chr14|KI270846.111SubmittedKI270846.1
KI270857.1Chr17|KI270857.111SubmittedKI270857.1
KI270938.1Chr19|KI270938.111SubmittedKI270938.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr11,6701,670RemappedNC_000001.10
NC_000002.11Chr21,8891,889RemappedNC_000002.11
NC_000003.11Chr31,6051,605RemappedNC_000003.11
NC_000004.11Chr41,5661,566RemappedNC_000004.11
NC_000005.9Chr51,4861,486RemappedNC_000005.9
NC_000006.11Chr61,4471,447RemappedNC_000006.11
NC_000007.13Chr71,2291,229RemappedNC_000007.13
NC_000008.10Chr81,1361,136RemappedNC_000008.10
NC_000009.11Chr9894894RemappedNC_000009.11
NC_000010.10Chr10985985RemappedNC_000010.10
NC_000011.9Chr11983983RemappedNC_000011.9
NC_000012.11Chr121,0311,031RemappedNC_000012.11
NC_000013.10Chr13889889RemappedNC_000013.10
NC_000014.8Chr14702702RemappedNC_000014.8
NC_000015.9Chr15649649RemappedNC_000015.9
NC_000016.9Chr16509509RemappedNC_000016.9
NC_000017.10Chr17537537RemappedNC_000017.10
NC_000018.9Chr18622622RemappedNC_000018.9
NC_000019.9Chr19333333RemappedNC_000019.9
NC_000020.10Chr20388388RemappedNC_000020.10
NC_000021.8Chr21294294RemappedNC_000021.8
NC_000022.10Chr22229229RemappedNC_000022.10
NC_000023.10ChrX680680RemappedNC_000023.10
NC_000024.9ChrY4141RemappedNC_000024.9
NT_113923.1Unplaced|NT_113923.133RemappedNT_113923.1
NT_167215.1Unplaced|NT_167215.111RemappedNT_167215.1
NT_167225.1Unplaced|NT_167225.111RemappedNT_167225.1
NT_167226.1Unplaced|NT_167226.133RemappedNT_167226.1
NT_167231.1Unplaced|NT_167231.111RemappedNT_167231.1
NT_167207.1Chr1|NT_167207.177RemappedNT_167207.1
NW_003315903.1Chr1|NW_003315903.111RemappedNW_003315903.1
NW_003315904.1Chr1|NW_003315904.111RemappedNW_003315904.1
NW_003871055.3Chr1|NW_003871055.33434RemappedNW_003871055.3
NW_003871056.3Chr1|NW_003871056.31010RemappedNW_003871056.3
NW_003871057.1Chr1|NW_003871057.11212RemappedNW_003871057.1
NW_003571031.1Chr2|NW_003571031.133RemappedNW_003571031.1
NW_003571032.1Chr2|NW_003571032.133RemappedNW_003571032.1
NW_004504299.1Chr2|NW_004504299.177RemappedNW_004504299.1
NW_003315911.1Chr3|NW_003315911.111RemappedNW_003315911.1
NW_003315912.1Chr3|NW_003315912.111RemappedNW_003315912.1
NW_003871058.1Chr3|NW_003871058.111RemappedNW_003871058.1
NW_003871059.1Chr3|NW_003871059.122RemappedNW_003871059.1
NT_113885.1Chr4|NT_113885.122RemappedNT_113885.1
NW_003571034.1Chr4|NW_003571034.144RemappedNW_003571034.1
NW_003571035.1Chr4|NW_003571035.133RemappedNW_003571035.1
NW_004775427.1Chr4|NW_004775427.166RemappedNW_004775427.1
NT_113948.1Chr5|NT_113948.111RemappedNT_113948.1
NW_003871061.1Chr5|NW_003871061.155RemappedNW_003871061.1
NW_004775428.1Chr5|NW_004775428.144RemappedNW_004775428.1
NT_167249.1Chr6|NT_167249.111RemappedNT_167249.1
NW_003871062.1Chr6|NW_003871062.122RemappedNW_003871062.1
NW_004070866.1Chr6|NW_004070866.133RemappedNW_004070866.1
NW_004504300.1Chr6|NW_004504300.144RemappedNW_004504300.1
NW_003571037.1Chr7|NW_003571037.111RemappedNW_003571037.1
NW_003571038.1Chr7|NW_003571038.133RemappedNW_003571038.1
NW_003571039.1Chr7|NW_003571039.111RemappedNW_003571039.1
NW_003571040.1Chr7|NW_003571040.166RemappedNW_003571040.1
NW_003571041.1Chr7|NW_003571041.111RemappedNW_003571041.1
NW_003871064.1Chr7|NW_003871064.11313RemappedNW_003871064.1
NW_003871065.1Chr7|NW_003871065.155RemappedNW_003871065.1
NW_004775430.1Chr7|NW_004775430.111RemappedNW_004775430.1
NW_003315923.1Chr8|NW_003315923.122RemappedNW_003315923.1
NW_003315924.1Chr8|NW_003315924.111RemappedNW_003315924.1
NW_003571042.1Chr8|NW_003571042.111RemappedNW_003571042.1
NW_004775431.1Chr8|NW_004775431.111RemappedNW_004775431.1
NT_113914.1Chr9|NT_113914.111RemappedNT_113914.1
NW_003871067.1Chr9|NW_003871067.111RemappedNW_003871067.1
NW_004504301.1Chr9|NW_004504301.111RemappedNW_004504301.1
NW_003315932.1Chr10|NW_003315932.133RemappedNW_003315932.1
NW_003315933.1Chr10|NW_003315933.111RemappedNW_003315933.1
NW_003571043.1Chr10|NW_003571043.111RemappedNW_003571043.1
NW_003871068.1Chr10|NW_003871068.11010RemappedNW_003871068.1
NW_003871069.1Chr10|NW_003871069.111RemappedNW_003871069.1
NW_003871070.1Chr10|NW_003871070.111RemappedNW_003871070.1
NW_003871071.1Chr10|NW_003871071.122RemappedNW_003871071.1
NW_004504302.1Chr10|NW_004504302.144RemappedNW_004504302.1
NW_004775432.1Chr10|NW_004775432.11616RemappedNW_004775432.1
NW_003571046.1Chr11|NW_003571046.144RemappedNW_003571046.1
NW_003871072.2Chr11|NW_003871072.222RemappedNW_003871072.2
NW_003871075.1Chr11|NW_003871075.144RemappedNW_003871075.1
NW_003871076.1Chr11|NW_003871076.111RemappedNW_003871076.1
NW_003871077.1Chr11|NW_003871077.111RemappedNW_003871077.1
NW_003871078.1Chr11|NW_003871078.122RemappedNW_003871078.1
NW_003871079.1Chr11|NW_003871079.122RemappedNW_003871079.1
NW_003871080.1Chr11|NW_003871080.111RemappedNW_003871080.1
NW_003871081.1Chr11|NW_003871081.133RemappedNW_003871081.1
NW_004070871.1Chr11|NW_004070871.122RemappedNW_004070871.1
NW_003571048.1Chr12|NW_003571048.122RemappedNW_003571048.1
NW_003871083.2Chr12|NW_003871083.222RemappedNW_003871083.2
NW_004504303.2Chr12|NW_004504303.211RemappedNW_004504303.2
NW_003571051.1Chr13|NW_003571051.111RemappedNW_003571051.1
NW_004166863.1Chr14|NW_004166863.155RemappedNW_004166863.1
NW_003871084.1Chr15|NW_003871084.111RemappedNW_003871084.1
NT_113941.1Chr17|NT_113941.111RemappedNT_113941.1
NW_003315947.1Chr17|NW_003315947.111RemappedNW_003315947.1
NW_003315949.1Chr17|NW_003315949.144RemappedNW_003315949.1
NW_003315950.2Chr17|NW_003315950.244RemappedNW_003315950.2
NW_003571052.1Chr17|NW_003571052.155RemappedNW_003571052.1
NW_003871088.1Chr17|NW_003871088.111RemappedNW_003871088.1
NW_003871089.1Chr17|NW_003871089.122RemappedNW_003871089.1
NW_003871090.1Chr17|NW_003871090.122RemappedNW_003871090.1
NW_004070872.2Chr17|NW_004070872.211RemappedNW_004070872.2
NW_004166864.2Chr17|NW_004166864.222RemappedNW_004166864.2
NW_004775433.1Chr17|NW_004775433.166RemappedNW_004775433.1
NW_003571053.2Chr19|NW_003571053.233RemappedNW_003571053.2
NW_003871094.1Chr19|NW_003871094.133RemappedNW_003871094.1
NW_004166865.1Chr19|NW_004166865.11212RemappedNW_004166865.1
NW_004775434.1Chr19|NW_004775434.144RemappedNW_004775434.1
NW_003571063.2Chr20|NW_003571063.211RemappedNW_003571063.2
NW_004504304.1Chr20|NW_004504304.144RemappedNW_004504304.1
NW_003315968.1Chr21|NW_003315968.122RemappedNW_003315968.1
NW_004775435.1Chr21|NW_004775435.122RemappedNW_004775435.1
NW_003871096.1Chr22|NW_003871096.133RemappedNW_003871096.1
NT_167212.1Chr22|NT_167212.111RemappedNT_167212.1
NT_167235.1Chr22|NT_167235.111RemappedNT_167235.1
NW_003571064.2ChrX|NW_003571064.233RemappedNW_003571064.2
NW_003871098.1ChrX|NW_003871098.133RemappedNW_003871098.1
NW_003871099.1ChrX|NW_003871099.111RemappedNW_003871099.1
NW_003871100.1ChrX|NW_003871100.144RemappedNW_003871100.1
NW_003871101.3ChrX|NW_003871101.311RemappedNW_003871101.3
NW_003871102.1ChrX|NW_003871102.111RemappedNW_003871102.1
NW_003871103.3ChrX|NW_003871103.399RemappedNW_003871103.3
NW_004070877.1ChrX|NW_004070877.11717RemappedNW_004070877.1
NW_004070878.1ChrX|NW_004070878.177RemappedNW_004070878.1
NW_004070879.1ChrX|NW_004070879.155RemappedNW_004070879.1
NW_004070880.2ChrX|NW_004070880.288RemappedNW_004070880.2
NW_004070881.1ChrX|NW_004070881.122RemappedNW_004070881.1
NW_004070882.1ChrX|NW_004070882.166RemappedNW_004070882.1
NW_004070883.1ChrX|NW_004070883.111RemappedNW_004070883.1
NW_004070885.1ChrX|NW_004070885.122RemappedNW_004070885.1
NW_004070886.1ChrX|NW_004070886.111RemappedNW_004070886.1
NW_004070887.1ChrX|NW_004070887.122RemappedNW_004070887.1
NW_004070888.1ChrX|NW_004070888.144RemappedNW_004070888.1
NW_004070889.1ChrX|NW_004070889.11313RemappedNW_004070889.1
NW_004070890.2ChrX|NW_004070890.22424RemappedNW_004070890.2
NW_004070891.1ChrX|NW_004070891.188RemappedNW_004070891.1
NW_004070892.1ChrX|NW_004070892.155RemappedNW_004070892.1

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
KI270905.1Chr15|KI270905.1100010100010
NC_000001.11Chr11,7061,6460016441,7061,646001644
NC_000002.12Chr21,8921,878001131,8921,87800113
NC_000003.12Chr31,6111,60500331,6111,6050033
NC_000004.12Chr41,5631,55400091,5631,5540009
NC_000005.10Chr51,4881,47800191,4881,4780019
NC_000006.12Chr61,4551,4350010101,4551,435001010
NC_000007.14Chr71,2351,210001241,2351,21000124
NC_000008.11Chr81,1381,13500031,1381,1350003
NC_000009.12Chr989088700128908870012
NC_000010.11Chr101,002965006311,00296500631
NC_000011.10Chr119859630012198596300121
NC_000012.12Chr121,0341,02600351,0341,0260035
NC_000013.11Chr139058910013190589100131
NC_000014.9Chr1470770500117077050011
NC_000015.10Chr1564964800016496480001
NC_000016.10Chr1650950800105095080010
NC_000017.11Chr175525370011455253700114
NC_000018.10Chr1862362100206236210020
NC_000019.10Chr1934633700093463370009
NC_000020.11Chr204063920010440639200104
NC_000021.9Chr2130730000523073000052
NC_000022.11Chr2224423800332442380033
NC_000023.11ChrX682557000125682557000125
NC_000024.10ChrY4141000041410000

Samplesets

Number of Samplesets: 1

Name:
IndiGEN_2021
Size:
1,021
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 1021 samples)
    Sample IDSubject ID EthnicitySubject Phenotype
    IND1012IND1012IndiaNot reported
    IND100IND100IndiaNot reported
    IND1007IND1007IndiaNot reported
    IND148IND148IndiaNot reported
    IND1018IND1018IndiaNot reported
    IND116IND116IndiaNot reported
    IND150IND150IndiaNot reported
    IND1013IND1013IndiaNot reported
    IND15IND15IndiaNot reported
    IND131IND131IndiaNot reported
    IND122IND122IndiaNot reported
    IND156IND156IndiaNot reported
    IND161IND161IndiaNot reported
    IND14IND14IndiaNot reported
    IND146IND146IndiaNot reported
    IND1003IND1003IndiaNot reported
    IND112IND112IndiaNot reported
    IND144IND144IndiaNot reported
    IND121IND121IndiaNot reported
    IND157IND157IndiaNot reported
    IND104IND104IndiaNot reported
    IND118IND118IndiaNot reported
    IND1016IND1016IndiaNot reported
    IND1005IND1005IndiaNot reported
    IND109IND109IndiaNot reported
    IND152IND152IndiaNot reported
    IND12IND12IndiaNot reported
    IND113IND113IndiaNot reported
    IND153IND153IndiaNot reported
    IND149IND149IndiaNot reported
    IND124IND124IndiaNot reported
    IND134IND134IndiaNot reported
    IND1014IND1014IndiaNot reported
    IND1002IND1002IndiaNot reported
    IND1009IND1009IndiaNot reported
    IND165IND165IndiaNot reported
    IND120IND120IndiaNot reported
    IND110IND110IndiaNot reported
    IND119IND119IndiaNot reported
    IND168IND168IndiaNot reported
    IND158IND158IndiaNot reported
    IND137IND137IndiaNot reported
    IND162IND162IndiaNot reported
    IND135IND135IndiaNot reported
    IND1008IND1008IndiaNot reported
    IND16IND16IndiaNot reported
    IND160IND160IndiaNot reported
    IND151IND151IndiaNot reported
    IND1011IND1011IndiaNot reported
    IND167IND167IndiaNot reported
    IND164IND164IndiaNot reported
    IND133IND133IndiaNot reported
    IND139IND139IndiaNot reported
    IND1020IND1020IndiaNot reported
    IND136IND136IndiaNot reported
    IND111IND111IndiaNot reported
    IND159IND159IndiaNot reported
    IND1019IND1019IndiaNot reported
    IND129IND129IndiaNot reported
    IND125IND125IndiaNot reported
    IND140IND140IndiaNot reported
    IND115IND115IndiaNot reported
    IND108IND108IndiaNot reported
    IND138IND138IndiaNot reported
    IND128IND128IndiaNot reported
    IND163IND163IndiaNot reported
    IND142IND142IndiaNot reported
    IND126IND126IndiaNot reported
    IND105IND105IndiaNot reported
    IND155IND155IndiaNot reported
    IND106IND106IndiaNot reported
    IND130IND130IndiaNot reported
    IND103IND103IndiaNot reported
    IND154IND154IndiaNot reported
    IND1004IND1004IndiaNot reported
    IND166IND166IndiaNot reported
    IND117IND117IndiaNot reported
    IND1010IND1010IndiaNot reported
    IND107IND107IndiaNot reported
    IND1021IND1021IndiaNot reported
    IND1001IND1001IndiaNot reported
    IND141IND141IndiaNot reported
    IND13IND13IndiaNot reported
    IND1015IND1015IndiaNot reported
    IND1017IND1017IndiaNot reported
    IND1000IND1000IndiaNot reported
    IND145IND145IndiaNot reported
    IND127IND127IndiaNot reported
    IND1IND1IndiaNot reported
    IND11IND11IndiaNot reported
    IND102IND102IndiaNot reported
    IND147IND147IndiaNot reported
    IND143IND143IndiaNot reported
    IND169IND169IndiaNot reported
    IND1006IND1006IndiaNot reported
    IND123IND123IndiaNot reported
    IND10IND10IndiaNot reported
    IND114IND114IndiaNot reported
    IND101IND101IndiaNot reported
    IND132IND132IndiaNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoverySequencingSplit read mapping21,981

    Validations

    No validation data were submitted for this study.

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