U.S. flag

An official website of the United States government

nstd100 (Coe et al. 2014)

Organism:
Human
Study Type:
Case-Control
Submitter:
Evan Eichler
Description:
Copy Number Variants from 29,083 cases of Developmental Delay and Intellectual Disability from Signature Genomics, and 11,256 Control Samples. This study contains samples in common with Cooper et al. 2011. Due to analysis differences (see manuscripts) please use the case samples (Sampleset 1) from only one of these submissions. Control sample sets do not overlap and may be combined. See Variant Summary counts for nstd100 in dbVar Variant Summary.
Publication(s):
Coe et al. 2014

Detailed Information: Download 70319 Variant Regions, Download 318775 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr15,77941,031RemappedNC_000001.11
NC_000002.12Chr24,82317,730RemappedNC_000002.12
NC_000003.12Chr34,37325,048RemappedNC_000003.12
NC_000004.12Chr44,17829,530RemappedNC_000004.12
NC_000005.10Chr53,05111,048RemappedNC_000005.10
NC_000006.12Chr63,46318,791RemappedNC_000006.12
NC_000007.14Chr74,38114,162RemappedNC_000007.14
NC_000008.11Chr84,87021,399RemappedNC_000008.11
NC_000009.12Chr93,11410,074RemappedNC_000009.12
NC_000010.11Chr103,0817,604RemappedNC_000010.11
NC_000011.10Chr112,7669,978RemappedNC_000011.10
NC_000012.12Chr122,41312,198RemappedNC_000012.12
NC_000013.11Chr131,4945,149RemappedNC_000013.11
NC_000014.9Chr143,32511,535RemappedNC_000014.9
NC_000015.10Chr154,73017,190RemappedNC_000015.10
NC_000016.10Chr163,64513,158RemappedNC_000016.10
NC_000017.11Chr172,59513,098RemappedNC_000017.11
NC_000018.10Chr181,2362,228RemappedNC_000018.10
NC_000019.10Chr192,1228,271RemappedNC_000019.10
NC_000020.11Chr201,3128,146RemappedNC_000020.11
NC_000021.9Chr219242,783RemappedNC_000021.9
NC_000022.11Chr221,6036,048RemappedNC_000022.11
NT_187367.1Chr1|NT_187367.1813RemappedNT_187367.1
NT_187514.1Chr1|NT_187514.122RemappedNT_187514.1
NT_187515.1Chr1|NT_187515.133RemappedNT_187515.1
NT_187516.1Chr1|NT_187516.188RemappedNT_187516.1
NT_187517.1Chr1|NT_187517.122RemappedNT_187517.1
NT_187518.1Chr1|NT_187518.11117RemappedNT_187518.1
NT_187519.1Chr1|NT_187519.11717RemappedNT_187519.1
NT_187520.1Chr1|NT_187520.134RemappedNT_187520.1
NT_187646.1Chr1|NT_187646.11011RemappedNT_187646.1
NW_003315905.1Chr1|NW_003315905.147RemappedNW_003315905.1
NW_003315906.1Chr1|NW_003315906.122RemappedNW_003315906.1
NW_003315907.2Chr1|NW_003315907.266RemappedNW_003315907.2
NW_009646195.1Chr1|NW_009646195.111RemappedNW_009646195.1
NW_011332687.1Chr1|NW_011332687.1617RemappedNW_011332687.1
NW_011332688.1Chr1|NW_011332688.11737RemappedNW_011332688.1
NW_012132914.1Chr1|NW_012132914.123182RemappedNW_012132914.1
NW_014040925.1Chr1|NW_014040925.111RemappedNW_014040925.1
NW_014040927.1Chr1|NW_014040927.11516RemappedNW_014040927.1
NW_017852928.1Chr1|NW_017852928.11010RemappedNW_017852928.1
NW_018654707.1Chr1|NW_018654707.11455,938RemappedNW_018654707.1
NW_018654708.1Chr1|NW_018654708.169RemappedNW_018654708.1
NT_187522.1Chr2|NT_187522.122RemappedNT_187522.1
NT_187523.1Chr2|NT_187523.1111936RemappedNT_187523.1
NT_187524.1Chr2|NT_187524.1712RemappedNT_187524.1
NT_187525.1Chr2|NT_187525.11214RemappedNT_187525.1
NT_187526.1Chr2|NT_187526.111RemappedNT_187526.1
NT_187527.1Chr2|NT_187527.1912RemappedNT_187527.1
NT_187528.1Chr2|NT_187528.122RemappedNT_187528.1
NT_187529.1Chr2|NT_187529.11322RemappedNT_187529.1
NT_187530.1Chr2|NT_187530.133RemappedNT_187530.1
NT_187647.1Chr2|NT_187647.1111936RemappedNT_187647.1
NT_187648.1Chr2|NT_187648.11838RemappedNT_187648.1
NW_003315908.1Chr2|NW_003315908.112RemappedNW_003315908.1
NW_011332689.1Chr2|NW_011332689.147RemappedNW_011332689.1
NW_011332690.1Chr2|NW_011332690.111RemappedNW_011332690.1
NW_012132915.1Chr2|NW_012132915.1238356RemappedNW_012132915.1
NW_018654709.1Chr2|NW_018654709.111RemappedNW_018654709.1
NT_187678.1Chr3|NT_187678.1982,115RemappedNT_187678.1
NT_187688.1Chr3|NT_187688.1972,101RemappedNT_187688.1
NT_187689.1Chr3|NT_187689.11002,117RemappedNT_187689.1
NT_187690.1Chr3|NT_187690.1982,115RemappedNT_187690.1
NT_187691.1Chr3|NT_187691.1992,116RemappedNT_187691.1
NT_187532.1Chr3|NT_187532.11002,117RemappedNT_187532.1
NT_187534.1Chr3|NT_187534.11415RemappedNT_187534.1
NT_187535.1Chr3|NT_187535.111RemappedNT_187535.1
NT_187536.1Chr3|NT_187536.122RemappedNT_187536.1
NT_187537.1Chr3|NT_187537.11218RemappedNT_187537.1
NT_187538.1Chr3|NT_187538.155RemappedNT_187538.1
NT_187539.1Chr3|NT_187539.11316RemappedNT_187539.1
NT_187649.1Chr3|NT_187649.1972,101RemappedNT_187649.1
NW_003315913.1Chr3|NW_003315913.111RemappedNW_003315913.1
NW_003871060.2Chr3|NW_003871060.21927RemappedNW_003871060.2
NW_009646197.1Chr3|NW_009646197.111RemappedNW_009646197.1
NW_009646198.1Chr3|NW_009646198.11521RemappedNW_009646198.1
NW_011332691.1Chr3|NW_011332691.111RemappedNW_011332691.1
NW_012132916.1Chr3|NW_012132916.111RemappedNW_012132916.1
NW_018654711.1Chr3|NW_018654711.122RemappedNW_018654711.1
NW_019805488.1Chr3|NW_019805488.131291RemappedNW_019805488.1
NW_019805489.1Chr3|NW_019805489.111RemappedNW_019805489.1
NW_019805490.1Chr3|NW_019805490.144RemappedNW_019805490.1
NW_019805492.1Chr3|NW_019805492.111RemappedNW_019805492.1
NT_187679.1Chr4|NT_187679.13862RemappedNT_187679.1
NT_167250.2Chr4|NT_167250.21752RemappedNT_167250.2
NT_187540.1Chr4|NT_187540.1610RemappedNT_187540.1
NT_187541.1Chr4|NT_187541.111RemappedNT_187541.1
NT_187542.1Chr4|NT_187542.112RemappedNT_187542.1
NT_187543.1Chr4|NT_187543.11526RemappedNT_187543.1
NT_187544.1Chr4|NT_187544.111RemappedNT_187544.1
NT_187545.1Chr4|NT_187545.11011RemappedNT_187545.1
NT_187650.1Chr4|NT_187650.11526RemappedNT_187650.1
NW_003315914.1Chr4|NW_003315914.146RemappedNW_003315914.1
NW_003315915.1Chr4|NW_003315915.11954,997RemappedNW_003315915.1
NW_013171800.1Chr4|NW_013171800.111RemappedNW_013171800.1
NW_013171801.1Chr4|NW_013171801.159RemappedNW_013171801.1
NW_017363814.1Chr4|NW_017363814.134RemappedNW_017363814.1
NT_187547.1Chr5|NT_187547.111RemappedNT_187547.1
NT_187548.1Chr5|NT_187548.124RemappedNT_187548.1
NT_187549.1Chr5|NT_187549.111RemappedNT_187549.1
NT_187550.1Chr5|NT_187550.11521RemappedNT_187550.1
NT_187551.1Chr5|NT_187551.122RemappedNT_187551.1
NT_187651.1Chr5|NT_187651.119248RemappedNT_187651.1
NW_003315920.1Chr5|NW_003315920.11340RemappedNW_003315920.1
NW_003571036.1Chr5|NW_003571036.11519RemappedNW_003571036.1
NW_009646199.1Chr5|NW_009646199.144RemappedNW_009646199.1
NW_016107297.1Chr5|NW_016107297.155RemappedNW_016107297.1
NW_016107298.1Chr5|NW_016107298.12035RemappedNW_016107298.1
NW_018654712.1Chr5|NW_018654712.155RemappedNW_018654712.1
NT_167246.2Chr6|NT_167246.265441RemappedNT_167246.2
NT_167247.2Chr6|NT_167247.22628RemappedNT_167247.2
NT_167249.2Chr6|NT_167249.263195RemappedNT_167249.2
NT_167245.2Chr6|NT_167245.22226RemappedNT_167245.2
NT_167244.2Chr6|NT_167244.21014RemappedNT_167244.2
NT_187552.1Chr6|NT_187552.111RemappedNT_187552.1
NT_187553.1Chr6|NT_187553.11318RemappedNT_187553.1
NT_187554.1Chr6|NT_187554.122RemappedNT_187554.1
NT_187556.1Chr6|NT_187556.144RemappedNT_187556.1
NT_187557.1Chr6|NT_187557.111RemappedNT_187557.1
NW_004166862.2Chr6|NW_004166862.288RemappedNW_004166862.2
NW_009646200.1Chr6|NW_009646200.11342RemappedNW_009646200.1
NW_012132918.1Chr6|NW_012132918.1715RemappedNW_012132918.1
NW_018654713.1Chr6|NW_018654713.11435RemappedNW_018654713.1
NT_187558.1Chr7|NT_187558.160128RemappedNT_187558.1
NT_187559.1Chr7|NT_187559.111RemappedNT_187559.1
NT_187560.1Chr7|NT_187560.1911RemappedNT_187560.1
NT_187561.1Chr7|NT_187561.14762RemappedNT_187561.1
NT_187562.1Chr7|NT_187562.137510,832RemappedNT_187562.1
NT_187563.1Chr7|NT_187563.134RemappedNT_187563.1
NT_187564.1Chr7|NT_187564.111RemappedNT_187564.1
NT_187653.1Chr7|NT_187653.160128RemappedNT_187653.1
NW_012132919.1Chr7|NW_012132919.111RemappedNW_012132919.1
NW_017852930.1Chr7|NW_017852930.1811RemappedNW_017852930.1
NW_018654714.1Chr7|NW_018654714.1213937RemappedNW_018654714.1
NW_018654715.1Chr7|NW_018654715.154666RemappedNW_018654715.1
NW_019805493.1Chr7|NW_019805493.11841RemappedNW_019805493.1
NT_187680.1Chr8|NT_187680.11624RemappedNT_187680.1
NT_187565.1Chr8|NT_187565.11617RemappedNT_187565.1
NT_187566.1Chr8|NT_187566.133RemappedNT_187566.1
NT_187568.1Chr8|NT_187568.166RemappedNT_187568.1
NT_187570.1Chr8|NT_187570.12791,559RemappedNT_187570.1
NT_187571.1Chr8|NT_187571.11229RemappedNT_187571.1
NT_187572.1Chr8|NT_187572.144RemappedNT_187572.1
NT_187573.1Chr8|NT_187573.111RemappedNT_187573.1
NT_187574.1Chr8|NT_187574.177RemappedNT_187574.1
NT_187576.1Chr8|NT_187576.1192719RemappedNT_187576.1
NT_187577.1Chr8|NT_187577.178RemappedNT_187577.1
NT_187654.1Chr8|NT_187654.12736RemappedNT_187654.1
NT_187655.1Chr8|NT_187655.155RemappedNT_187655.1
NW_017852931.1Chr8|NW_017852931.111RemappedNW_017852931.1
NW_017852932.1Chr8|NW_017852932.144RemappedNW_017852932.1
NW_018654716.1Chr8|NW_018654716.122RemappedNW_018654716.1
NW_018654717.1Chr8|NW_018654717.16432,593RemappedNW_018654717.1
NW_019805494.1Chr8|NW_019805494.111RemappedNW_019805494.1
NT_187578.1Chr9|NT_187578.122RemappedNT_187578.1
NW_003315928.1Chr9|NW_003315928.111RemappedNW_003315928.1
NW_003315929.1Chr9|NW_003315929.1414RemappedNW_003315929.1
NW_003315930.1Chr9|NW_003315930.111RemappedNW_003315930.1
NW_009646201.1Chr9|NW_009646201.111RemappedNW_009646201.1
NW_013171804.1Chr9|NW_013171804.111RemappedNW_013171804.1
NW_013171805.1Chr9|NW_013171805.133RemappedNW_013171805.1
NT_187579.1Chr10|NT_187579.11318RemappedNT_187579.1
NW_003315934.1Chr10|NW_003315934.11578RemappedNW_003315934.1
NW_009646202.1Chr10|NW_009646202.133RemappedNW_009646202.1
NW_013171806.1Chr10|NW_013171806.148176RemappedNW_013171806.1
NW_013171807.1Chr10|NW_013171807.179RemappedNW_013171807.1
NT_187681.1Chr11|NT_187681.145RemappedNT_187681.1
NT_187656.1Chr11|NT_187656.145RemappedNT_187656.1
NT_187657.1Chr11|NT_187657.133RemappedNT_187657.1
NT_187581.1Chr11|NT_187581.13135RemappedNT_187581.1
NT_187583.1Chr11|NT_187583.155RemappedNT_187583.1
NT_187584.1Chr11|NT_187584.122RemappedNT_187584.1
NT_187585.1Chr11|NT_187585.133RemappedNT_187585.1
NT_187586.1Chr11|NT_187586.133RemappedNT_187586.1
NW_003315936.1Chr11|NW_003315936.11135RemappedNW_003315936.1
NW_003871073.1Chr11|NW_003871073.111RemappedNW_003871073.1
NW_003871074.1Chr11|NW_003871074.122RemappedNW_003871074.1
NW_011332695.1Chr11|NW_011332695.155RemappedNW_011332695.1
NW_019805495.1Chr11|NW_019805495.12386RemappedNW_019805495.1
NW_019805497.1Chr11|NW_019805497.166RemappedNW_019805497.1
NW_019805498.1Chr11|NW_019805498.111RemappedNW_019805498.1
NT_187658.1Chr12|NT_187658.1572,105RemappedNT_187658.1
NT_187587.1Chr12|NT_187587.1126964RemappedNT_187587.1
NT_187588.1Chr12|NT_187588.122RemappedNT_187588.1
NT_187589.1Chr12|NT_187589.146RemappedNT_187589.1
NW_003315938.1Chr12|NW_003315938.122RemappedNW_003315938.1
NW_003315939.2Chr12|NW_003315939.211RemappedNW_003315939.2
NW_003315940.1Chr12|NW_003315940.136RemappedNW_003315940.1
NW_003315942.2Chr12|NW_003315942.222RemappedNW_003315942.2
NW_003571049.1Chr12|NW_003571049.14078RemappedNW_003571049.1
NW_003571050.1Chr12|NW_003571050.11116RemappedNW_003571050.1
NW_009646204.1Chr12|NW_009646204.111RemappedNW_009646204.1
NW_011332696.1Chr12|NW_011332696.11124RemappedNW_011332696.1
NW_013171809.1Chr12|NW_013171809.112RemappedNW_013171809.1
NW_015148967.1Chr12|NW_015148967.11830RemappedNW_015148967.1
NW_018654718.1Chr12|NW_018654718.158886RemappedNW_018654718.1
NW_018654720.1Chr12|NW_018654720.122RemappedNW_018654720.1
NW_019805499.1Chr12|NW_019805499.1317RemappedNW_019805499.1
NT_187592.1Chr13|NT_187592.156RemappedNT_187592.1
NT_187593.1Chr13|NT_187593.125RemappedNT_187593.1
NT_187594.1Chr13|NT_187594.199RemappedNT_187594.1
NT_187595.1Chr13|NT_187595.122RemappedNT_187595.1
NW_011332698.1Chr13|NW_011332698.11323RemappedNW_011332698.1
NW_011332699.1Chr13|NW_011332699.149152RemappedNW_011332699.1
NT_187598.1Chr14|NT_187598.122RemappedNT_187598.1
NT_187599.1Chr14|NT_187599.168RemappedNT_187599.1
NT_187600.1Chr14|NT_187600.18374,168RemappedNT_187600.1
NT_187601.1Chr14|NT_187601.12429RemappedNT_187601.1
NW_018654721.1Chr14|NW_018654721.133RemappedNW_018654721.1
NW_018654722.1Chr14|NW_018654722.170373RemappedNW_018654722.1
NT_187659.1Chr15|NT_187659.111RemappedNT_187659.1
NT_187660.1Chr15|NT_187660.1235664RemappedNT_187660.1
NT_187382.1Chr15|NT_187382.15973RemappedNT_187382.1
NT_187602.1Chr15|NT_187602.17897RemappedNT_187602.1
NT_187603.1Chr15|NT_187603.120323RemappedNT_187603.1
NT_187604.1Chr15|NT_187604.11830RemappedNT_187604.1
NT_187605.1Chr15|NT_187605.11015RemappedNT_187605.1
NT_187606.1Chr15|NT_187606.134RemappedNT_187606.1
NW_003315943.1Chr15|NW_003315943.111RemappedNW_003315943.1
NW_003315944.2Chr15|NW_003315944.233RemappedNW_003315944.2
NW_011332701.1Chr15|NW_011332701.1266807RemappedNW_011332701.1
NW_012132920.1Chr15|NW_012132920.11118RemappedNW_012132920.1
NT_187383.1Chr16|NT_187383.11519RemappedNT_187383.1
NT_187607.1Chr16|NT_187607.1129392RemappedNT_187607.1
NT_187608.1Chr16|NT_187608.111RemappedNT_187608.1
NT_187609.1Chr16|NT_187609.111RemappedNT_187609.1
NT_187610.1Chr16|NT_187610.133RemappedNT_187610.1
NW_003315945.1Chr16|NW_003315945.123RemappedNW_003315945.1
NW_012132921.1Chr16|NW_012132921.11818RemappedNW_012132921.1
NW_013171813.1Chr16|NW_013171813.111RemappedNW_013171813.1
NW_017852933.1Chr16|NW_017852933.175321RemappedNW_017852933.1
NW_019805500.1Chr16|NW_019805500.133RemappedNW_019805500.1
NT_187661.1Chr17|NT_187661.11041,810RemappedNT_187661.1
NT_187662.1Chr17|NT_187662.155RemappedNT_187662.1
NT_187663.1Chr17|NT_187663.14091,087RemappedNT_187663.1
NT_187664.1Chr17|NT_187664.1915RemappedNT_187664.1
NW_003871093.1Chr17|NW_003871093.155603RemappedNW_003871093.1
NT_167251.2Chr17|NT_167251.277235RemappedNT_167251.2
NT_187384.1Chr17|NT_187384.1712RemappedNT_187384.1
NT_187611.1Chr17|NT_187611.134RemappedNT_187611.1
NT_187612.1Chr17|NT_187612.13337RemappedNT_187612.1
NT_187613.1Chr17|NT_187613.12632RemappedNT_187613.1
NT_187614.1Chr17|NT_187614.11641,351RemappedNT_187614.1
NT_187616.1Chr17|NT_187616.122RemappedNT_187616.1
NW_003315952.3Chr17|NW_003315952.32223RemappedNW_003315952.3
NW_003315953.2Chr17|NW_003315953.216190RemappedNW_003315953.2
NW_003315954.1Chr17|NW_003315954.111RemappedNW_003315954.1
NW_003871092.1Chr17|NW_003871092.11848RemappedNW_003871092.1
NW_016107299.1Chr17|NW_016107299.111RemappedNW_016107299.1
NW_017363817.1Chr17|NW_017363817.11920RemappedNW_017363817.1
NW_017363818.1Chr17|NW_017363818.1812RemappedNW_017363818.1
NW_017363819.1Chr17|NW_017363819.12065RemappedNW_017363819.1
NW_019805501.1Chr17|NW_019805501.122RemappedNW_019805501.1
NT_187665.1Chr18|NT_187665.1918RemappedNT_187665.1
NT_187666.1Chr18|NT_187666.111RemappedNT_187666.1
NT_187617.1Chr18|NT_187617.177RemappedNT_187617.1
NT_187618.1Chr18|NT_187618.133RemappedNT_187618.1
NW_003315956.1Chr18|NW_003315956.111RemappedNW_003315956.1
NW_003315958.1Chr18|NW_003315958.1918RemappedNW_003315958.1
NW_003315959.1Chr18|NW_003315959.1412RemappedNW_003315959.1
NW_003315960.1Chr18|NW_003315960.111RemappedNW_003315960.1
NW_003315961.1Chr18|NW_003315961.111RemappedNW_003315961.1
NW_013171814.1Chr18|NW_013171814.134RemappedNW_013171814.1
NW_014040928.1Chr18|NW_014040928.133RemappedNW_014040928.1
NW_018654724.1Chr18|NW_018654724.145RemappedNW_018654724.1
NW_019805502.1Chr18|NW_019805502.111RemappedNW_019805502.1
NW_019805503.1Chr18|NW_019805503.118165RemappedNW_019805503.1
NT_187693.1Chr19|NT_187693.1179605RemappedNT_187693.1
NW_003571061.2Chr19|NW_003571061.274140RemappedNW_003571061.2
NW_003571057.2Chr19|NW_003571057.22332RemappedNW_003571057.2
NW_003571058.2Chr19|NW_003571058.22332RemappedNW_003571058.2
NW_003571059.2Chr19|NW_003571059.22433RemappedNW_003571059.2
NW_003571060.1Chr19|NW_003571060.171161RemappedNW_003571060.1
NW_003571056.2Chr19|NW_003571056.22332RemappedNW_003571056.2
NW_003571055.2Chr19|NW_003571055.24165RemappedNW_003571055.2
NT_187620.1Chr19|NT_187620.11033RemappedNT_187620.1
NT_187621.1Chr19|NT_187621.111RemappedNT_187621.1
NW_003315962.1Chr19|NW_003315962.14699RemappedNW_003315962.1
NW_003315963.1Chr19|NW_003315963.122RemappedNW_003315963.1
NW_003315964.2Chr19|NW_003315964.222RemappedNW_003315964.2
NW_003315965.1Chr19|NW_003315965.11926RemappedNW_003315965.1
NW_003571054.1Chr19|NW_003571054.186191RemappedNW_003571054.1
NW_009646206.1Chr19|NW_009646206.135RemappedNW_009646206.1
NW_014040929.1Chr19|NW_014040929.166RemappedNW_014040929.1
NT_187624.1Chr20|NT_187624.11720RemappedNT_187624.1
NW_003315966.2Chr20|NW_003315966.211RemappedNW_003315966.2
NT_187626.1Chr21|NT_187626.111RemappedNT_187626.1
NT_187628.1Chr21|NT_187628.122RemappedNT_187628.1
NW_003315967.2Chr21|NW_003315967.211RemappedNW_003315967.2
NW_003315968.2Chr21|NW_003315968.255RemappedNW_003315968.2
NW_015148969.1Chr22|NW_015148969.13770RemappedNW_015148969.1
NT_187629.1Chr22|NT_187629.13336RemappedNT_187629.1
NT_187630.1Chr22|NT_187630.111RemappedNT_187630.1
NT_187631.1Chr22|NT_187631.111RemappedNT_187631.1
NT_187632.1Chr22|NT_187632.122RemappedNT_187632.1
NT_187633.1Chr22|NT_187633.167480RemappedNT_187633.1
NW_003315972.2Chr22|NW_003315972.233RemappedNW_003315972.2
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr15,88341,285RemappedNC_000001.10
NC_000002.11Chr24,75617,621RemappedNC_000002.11
NC_000003.11Chr34,35825,027RemappedNC_000003.11
NC_000004.11Chr44,16629,511RemappedNC_000004.11
NC_000005.9Chr53,05111,048RemappedNC_000005.9
NC_000006.11Chr63,50018,844RemappedNC_000006.11
NC_000007.13Chr74,44618,133RemappedNC_000007.13
NC_000008.10Chr84,88221,418RemappedNC_000008.10
NC_000009.11Chr93,44711,224RemappedNC_000009.11
NC_000010.10Chr103,2048,229RemappedNC_000010.10
NC_000011.9Chr112,84410,070RemappedNC_000011.9
NC_000012.11Chr122,37512,122RemappedNC_000012.11
NC_000013.10Chr131,4965,151RemappedNC_000013.10
NC_000014.8Chr143,34611,634RemappedNC_000014.8
NC_000015.9Chr154,63417,066RemappedNC_000015.9
NC_000016.9Chr163,61913,094RemappedNC_000016.9
NC_000017.10Chr172,56312,958RemappedNC_000017.10
NC_000018.9Chr181,2362,228RemappedNC_000018.9
NC_000019.9Chr192,1018,241RemappedNC_000019.9
NC_000020.10Chr201,2858,107RemappedNC_000020.10
NC_000021.8Chr219242,783RemappedNC_000021.8
NC_000022.10Chr221,5956,334RemappedNC_000022.10
NW_003315903.1Chr1|NW_003315903.113RemappedNW_003315903.1
NW_003315904.1Chr1|NW_003315904.122RemappedNW_003315904.1
NW_003315905.1Chr1|NW_003315905.147RemappedNW_003315905.1
NW_003315907.1Chr1|NW_003315907.166RemappedNW_003315907.1
NW_003871055.3Chr1|NW_003871055.38392,828RemappedNW_003871055.3
NW_003871056.3Chr1|NW_003871056.33474RemappedNW_003871056.3
NW_003871057.1Chr1|NW_003871057.144RemappedNW_003871057.1
NW_003315908.1Chr2|NW_003315908.112RemappedNW_003315908.1
NW_003571031.1Chr2|NW_003571031.149RemappedNW_003571031.1
NW_003571032.1Chr2|NW_003571032.133RemappedNW_003571032.1
NW_004504299.1Chr2|NW_004504299.144RemappedNW_004504299.1
NW_003315913.1Chr3|NW_003315913.111RemappedNW_003315913.1
NW_003871058.1Chr3|NW_003871058.144RemappedNW_003871058.1
NW_003871059.1Chr3|NW_003871059.111RemappedNW_003871059.1
NW_003871060.1Chr3|NW_003871060.11927RemappedNW_003871060.1
NT_167250.1Chr4|NT_167250.11752RemappedNT_167250.1
NW_003315914.1Chr4|NW_003315914.146RemappedNW_003315914.1
NW_003315915.1Chr4|NW_003315915.11954,997RemappedNW_003315915.1
NW_003571034.1Chr4|NW_003571034.11728RemappedNW_003571034.1
NW_003571035.1Chr4|NW_003571035.111RemappedNW_003571035.1
NW_004775427.1Chr4|NW_004775427.11821,233RemappedNW_004775427.1
NW_003315920.1Chr5|NW_003315920.11340RemappedNW_003315920.1
NW_003571036.1Chr5|NW_003571036.11519RemappedNW_003571036.1
NW_003871061.1Chr5|NW_003871061.168RemappedNW_003871061.1
NW_004775428.1Chr5|NW_004775428.145RemappedNW_004775428.1
NT_167244.1Chr6|NT_167244.11014RemappedNT_167244.1
NT_167245.1Chr6|NT_167245.12226RemappedNT_167245.1
NT_167246.1Chr6|NT_167246.185489RemappedNT_167246.1
NT_167247.1Chr6|NT_167247.12628RemappedNT_167247.1
NT_167249.1Chr6|NT_167249.163195RemappedNT_167249.1
NW_004070866.1Chr6|NW_004070866.126183RemappedNW_004070866.1
NW_004166862.1Chr6|NW_004166862.188RemappedNW_004166862.1
NW_004504300.1Chr6|NW_004504300.144RemappedNW_004504300.1
NW_003571038.1Chr7|NW_003571038.12635RemappedNW_003571038.1
NW_003571039.1Chr7|NW_003571039.11435RemappedNW_003571039.1
NW_003571040.1Chr7|NW_003571040.137510,832RemappedNW_003571040.1
NW_003571041.1Chr7|NW_003571041.111RemappedNW_003571041.1
NW_003871064.1Chr7|NW_003871064.180189RemappedNW_003871064.1
NW_003871065.1Chr7|NW_003871065.111RemappedNW_003871065.1
NW_004775430.1Chr7|NW_004775430.11929RemappedNW_004775430.1
NW_003315924.1Chr8|NW_003315924.122RemappedNW_003315924.1
NW_003571042.1Chr8|NW_003571042.1171665RemappedNW_003571042.1
NW_004775431.1Chr8|NW_004775431.133RemappedNW_004775431.1
NW_003315925.1Chr9|NW_003315925.111RemappedNW_003315925.1
NW_003315928.1Chr9|NW_003315928.111RemappedNW_003315928.1
NW_003315929.1Chr9|NW_003315929.1818RemappedNW_003315929.1
NW_003315930.1Chr9|NW_003315930.111RemappedNW_003315930.1
NW_003871067.1Chr9|NW_003871067.1612RemappedNW_003871067.1
NW_004070868.1Chr9|NW_004070868.134RemappedNW_004070868.1
NW_003315932.1Chr10|NW_003315932.112RemappedNW_003315932.1
NW_003315933.1Chr10|NW_003315933.122RemappedNW_003315933.1
NW_003315934.1Chr10|NW_003315934.11578RemappedNW_003315934.1
NW_003571043.1Chr10|NW_003571043.12259RemappedNW_003571043.1
NW_003871068.1Chr10|NW_003871068.16571,709RemappedNW_003871068.1
NW_003871071.1Chr10|NW_003871071.11012RemappedNW_003871071.1
NW_004504302.1Chr10|NW_004504302.122RemappedNW_004504302.1
NW_004775432.1Chr10|NW_004775432.145RemappedNW_004775432.1
NW_003315936.1Chr11|NW_003315936.11135RemappedNW_003315936.1
NW_003571045.1Chr11|NW_003571045.155RemappedNW_003571045.1
NW_003871072.2Chr11|NW_003871072.244RemappedNW_003871072.2
NW_003871073.1Chr11|NW_003871073.111RemappedNW_003871073.1
NW_003871074.1Chr11|NW_003871074.122RemappedNW_003871074.1
NW_003871075.1Chr11|NW_003871075.111RemappedNW_003871075.1
NW_003871078.1Chr11|NW_003871078.144RemappedNW_003871078.1
NW_003871079.1Chr11|NW_003871079.111RemappedNW_003871079.1
NW_003871081.1Chr11|NW_003871081.11734RemappedNW_003871081.1
NW_004070871.1Chr11|NW_004070871.144RemappedNW_004070871.1
NW_003315938.1Chr12|NW_003315938.122RemappedNW_003315938.1
NW_003315939.1Chr12|NW_003315939.111RemappedNW_003315939.1
NW_003315940.1Chr12|NW_003315940.136RemappedNW_003315940.1
NW_003315942.2Chr12|NW_003315942.222RemappedNW_003315942.2
NW_003571048.1Chr12|NW_003571048.14078RemappedNW_003571048.1
NW_003571050.1Chr12|NW_003571050.111RemappedNW_003571050.1
NW_003871083.2Chr12|NW_003871083.233RemappedNW_003871083.2
NW_004504303.2Chr12|NW_004504303.222RemappedNW_004504303.2
NW_004166863.1Chr14|NW_004166863.17464,031RemappedNW_004166863.1
NW_003315944.1Chr15|NW_003315944.133RemappedNW_003315944.1
NW_003871084.1Chr15|NW_003871084.144RemappedNW_003871084.1
NT_167251.1Chr17|NT_167251.1124918RemappedNT_167251.1
NW_003315947.1Chr17|NW_003315947.134RemappedNW_003315947.1
NW_003315948.2Chr17|NW_003315948.233RemappedNW_003315948.2
NW_003315949.1Chr17|NW_003315949.11081,125RemappedNW_003315949.1
NW_003315950.2Chr17|NW_003315950.272157RemappedNW_003315950.2
NW_003315953.1Chr17|NW_003315953.116190RemappedNW_003315953.1
NW_003315954.1Chr17|NW_003315954.111RemappedNW_003315954.1
NW_003571052.1Chr17|NW_003571052.144RemappedNW_003571052.1
NW_003871086.1Chr17|NW_003871086.14401,762RemappedNW_003871086.1
NW_003871087.1Chr17|NW_003871087.11423RemappedNW_003871087.1
NW_003871088.1Chr17|NW_003871088.1617RemappedNW_003871088.1
NW_003871089.1Chr17|NW_003871089.133RemappedNW_003871089.1
NW_003871090.1Chr17|NW_003871090.144RemappedNW_003871090.1
NW_003871093.1Chr17|NW_003871093.129326RemappedNW_003871093.1
NW_004070872.2Chr17|NW_004070872.22223RemappedNW_004070872.2
NW_003315956.1Chr18|NW_003315956.111RemappedNW_003315956.1
NW_003315958.1Chr18|NW_003315958.1918RemappedNW_003315958.1
NW_003315959.1Chr18|NW_003315959.1412RemappedNW_003315959.1
NW_003315960.1Chr18|NW_003315960.111RemappedNW_003315960.1
NW_003315961.1Chr18|NW_003315961.111RemappedNW_003315961.1
NW_003315962.1Chr19|NW_003315962.14699RemappedNW_003315962.1
NW_003315963.1Chr19|NW_003315963.122RemappedNW_003315963.1
NW_003315964.2Chr19|NW_003315964.222RemappedNW_003315964.2
NW_003315965.1Chr19|NW_003315965.11926RemappedNW_003315965.1
NW_003571053.2Chr19|NW_003571053.21461,338RemappedNW_003571053.2
NW_003571054.1Chr19|NW_003571054.111RemappedNW_003571054.1
NW_003571055.1Chr19|NW_003571055.111RemappedNW_003571055.1
NW_003571056.1Chr19|NW_003571056.111RemappedNW_003571056.1
NW_003571057.1Chr19|NW_003571057.111RemappedNW_003571057.1
NW_003571058.1Chr19|NW_003571058.111RemappedNW_003571058.1
NW_003571059.1Chr19|NW_003571059.111RemappedNW_003571059.1
NW_003571060.1Chr19|NW_003571060.146RemappedNW_003571060.1
NW_003571061.1Chr19|NW_003571061.134RemappedNW_003571061.1
NW_003871094.1Chr19|NW_003871094.188RemappedNW_003871094.1
NW_004166865.1Chr19|NW_004166865.1109436RemappedNW_004166865.1
NW_004775434.1Chr19|NW_004775434.11542RemappedNW_004775434.1
NW_003315966.1Chr20|NW_003315966.111RemappedNW_003315966.1
NW_003571063.2Chr20|NW_003571063.21754RemappedNW_003571063.2
NW_004504304.1Chr20|NW_004504304.122RemappedNW_004504304.1
NW_003315967.1Chr21|NW_003315967.111RemappedNW_003315967.1
NW_003315968.1Chr21|NW_003315968.155RemappedNW_003315968.1
NW_004775435.1Chr21|NW_004775435.188RemappedNW_004775435.1
NW_003315972.1Chr22|NW_003315972.133RemappedNW_003315972.1
NW_003871096.1Chr22|NW_003871096.111RemappedNW_003871096.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr15,88541,287SubmittedNC_000001.9
NC_000002.10Chr24,75617,621SubmittedNC_000002.10
NC_000003.10Chr34,35825,027SubmittedNC_000003.10
NC_000004.10Chr44,24029,742SubmittedNC_000004.10
NC_000005.8Chr53,05111,048SubmittedNC_000005.8
NC_000006.10Chr63,50018,844SubmittedNC_000006.10
NC_000007.12Chr74,57023,591SubmittedNC_000007.12
NC_000008.9Chr84,89321,432SubmittedNC_000008.9
NC_000009.10Chr93,44911,228SubmittedNC_000009.10
NC_000010.9Chr103,2148,251SubmittedNC_000010.9
NC_000011.8Chr112,84410,070SubmittedNC_000011.8
NC_000012.10Chr122,41312,198SubmittedNC_000012.10
NC_000013.9Chr131,4965,151SubmittedNC_000013.9
NC_000014.7Chr143,34611,634SubmittedNC_000014.7
NC_000015.8Chr154,81317,294SubmittedNC_000015.8
NC_000016.8Chr163,61913,094SubmittedNC_000016.8
NC_000017.9Chr172,61713,126SubmittedNC_000017.9
NC_000018.8Chr181,2362,228SubmittedNC_000018.8
NC_000019.8Chr192,2158,685SubmittedNC_000019.8
NC_000020.9Chr201,2858,107SubmittedNC_000020.9
NC_000021.7Chr219242,783SubmittedNC_000021.7
NC_000022.9Chr221,5956,334SubmittedNC_000022.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr15,8855,22298128043741,28739,06011429101,822
NC_000002.10Chr24,7564,02918547306917,62115,6346901,1740123
NC_000003.10Chr34,3584,1671531302525,02722,7952,18514033
NC_000004.10Chr44,2403,529149966240429,74222,7631613082126,298
NC_000005.8Chr53,0512,891536903811,04810,56856352072
NC_000006.10Chr63,5003,2508212015618,84417,878140130813
NC_000007.12Chr74,5703,738186250239423,59111,3335,4921,052255,689
NC_000008.9Chr84,8933,748286694016521,43217,4385932,7450656
NC_000009.10Chr93,4492,95222225322011,2289,911336940437
NC_000010.9Chr103,2142,0897834027058,2515,225861,08351,852
NC_000011.8Chr112,8442,6245111905010,0709,75187141091
NC_000012.10Chr122,4132,295495301612,19812,0345986019
NC_000013.9Chr131,4961,4283533005,1515,060464500
NC_000014.7Chr143,3462,1954023074611,6345,6251,974404,031
NC_000015.8Chr154,8133,0261851,416179717,29411,5127044,8432287
NC_000016.8Chr163,6193,188307039413,09412,0613170995
NC_000017.9Chr172,6171,126393300379513,1263,7514,15982234,391
NC_000018.8Chr181,2361,10311430162,2282,0411513033
NC_000019.8Chr192,2151,843973502408,6856,7004174901,519
NC_000020.9Chr201,2851,2253190208,1077,87516213057
NC_000021.7Chr219248802460142,7832,686767014
NC_000022.9Chr221,5951,41712747046,3345,14136382604
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr15,8854,4896583389830241,28729,3853,7021,6452236,332
NC_000002.10Chr24,7563,507486345041817,62114,1721,22982001,400
NC_000003.10Chr34,3583,9242204021025,02722,088430402,505
NC_000004.10Chr44,2403,3814131026228229,74222,2311,8273162125,156
NC_000005.8Chr53,0512,74813764010211,04810,1112053470385
NC_000006.10Chr63,5003,035175742319318,84417,53324926733762
NC_000007.12Chr74,5703,1504702793963223,5919,2827,7082,4414683,692
NC_000008.9Chr84,8932,92031255201,10921,43214,5084802,45103,993
NC_000009.10Chr93,4492,452476252557011,2287,537542,5041,006127
NC_000010.9Chr103,2141,959278755133898,2515,0334051,879647287
NC_000011.8Chr112,8442,43420336789310,0709,2934505092185
NC_000012.10Chr122,4132,0046614032912,1987,979771604,126
NC_000013.9Chr131,4961,37259322315,1514,9916944245
NC_000014.7Chr143,3461,3185694962194211,6343,4651,2492,238994,583
NC_000015.8Chr154,8132,4683561,5631341317,29410,1966405,115151,328
NC_000016.8Chr163,6192,92576385023313,09411,337859290743
NC_000017.9Chr172,6171,02571591278413,1263,1895,75914524,031
NC_000018.8Chr181,2361,030140110552,2281,814165280221
NC_000019.8Chr192,2151,877158501758,6857,77454060365
NC_000020.9Chr201,2851,15910710188,1077,8042811021
NC_000021.7Chr2192466120320582,7832,29632420161
NC_000022.9Chr221,5958695279511036,3343,8221,8534731185

Samplesets

Number of Samplesets: 3

Sampleset ID:
1
Sampleset Type:
Case
Description:
Children referred to Signature Genomics with a general diagnosis of intellectual disability (ID) and/or developmental delay (DD).
Size:
29,083
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Global developmental delay
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 29083 samples)
    Sample IDSubject ID SexSubject Phenotype
    98607339860733MaleGlobal developmental delay
    98607349860734MaleGlobal developmental delay
    98607359860735MaleGlobal developmental delay
    98607369860736MaleGlobal developmental delay
    98607379860737MaleGlobal developmental delay
    98607389860738MaleGlobal developmental delay
    98607399860739MaleGlobal developmental delay
    98607409860740MaleGlobal developmental delay
    98607419860741FemaleGlobal developmental delay
    98607429860742FemaleGlobal developmental delay
    98607439860743FemaleGlobal developmental delay
    98607449860744FemaleGlobal developmental delay
    98607459860745FemaleGlobal developmental delay
    98607469860746FemaleGlobal developmental delay
    98607479860747FemaleGlobal developmental delay
    98607489860748FemaleGlobal developmental delay
    98607499860749FemaleGlobal developmental delay
    98607509860750FemaleGlobal developmental delay
    98607519860751FemaleGlobal developmental delay
    98607529860752FemaleGlobal developmental delay
    98607539860753FemaleGlobal developmental delay
    98607629860762MaleGlobal developmental delay
    98607639860763MaleGlobal developmental delay
    98607649860764FemaleGlobal developmental delay
    98607659860765FemaleGlobal developmental delay
    98607669860766FemaleGlobal developmental delay
    98607679860767FemaleGlobal developmental delay
    98607689860768FemaleGlobal developmental delay
    98607699860769FemaleGlobal developmental delay
    98607709860770FemaleGlobal developmental delay
    98607719860771MaleGlobal developmental delay
    98607729860772FemaleGlobal developmental delay
    98607859860785MaleGlobal developmental delay
    98607879860787FemaleGlobal developmental delay
    98607949860794MaleGlobal developmental delay
    98607959860795MaleGlobal developmental delay
    98607969860796MaleGlobal developmental delay
    98607979860797MaleGlobal developmental delay
    98607989860798MaleGlobal developmental delay
    98607999860799MaleGlobal developmental delay
    98608009860800FemaleGlobal developmental delay
    98608019860801MaleGlobal developmental delay
    98608029860802FemaleGlobal developmental delay
    98608039860803FemaleGlobal developmental delay
    98608049860804FemaleGlobal developmental delay
    98608059860805FemaleGlobal developmental delay
    98608179860817MaleGlobal developmental delay
    98608189860818MaleGlobal developmental delay
    98608199860819MaleGlobal developmental delay
    98608209860820MaleGlobal developmental delay
    98608219860821MaleGlobal developmental delay
    98608229860822FemaleGlobal developmental delay
    98608239860823FemaleGlobal developmental delay
    98608249860824FemaleGlobal developmental delay
    98608259860825FemaleGlobal developmental delay
    98608269860826FemaleGlobal developmental delay
    98608279860827FemaleGlobal developmental delay
    98608579860857MaleGlobal developmental delay
    98608589860858MaleGlobal developmental delay
    98608599860859MaleGlobal developmental delay
    98608609860860MaleGlobal developmental delay
    98608619860861MaleGlobal developmental delay
    98608629860862MaleGlobal developmental delay
    98608639860863FemaleGlobal developmental delay
    98608649860864FemaleGlobal developmental delay
    98608659860865FemaleGlobal developmental delay
    98608969860896MaleGlobal developmental delay
    98608979860897MaleGlobal developmental delay
    98608989860898MaleGlobal developmental delay
    98608999860899FemaleGlobal developmental delay
    98609009860900FemaleGlobal developmental delay
    98609019860901FemaleGlobal developmental delay
    98609029860902FemaleGlobal developmental delay
    98609039860903FemaleGlobal developmental delay
    98609049860904FemaleGlobal developmental delay
    98609059860905FemaleGlobal developmental delay
    98609069860906FemaleGlobal developmental delay
    98609079860907FemaleGlobal developmental delay
    98609189860918MaleGlobal developmental delay
    98609199860919MaleGlobal developmental delay
    98609209860920MaleGlobal developmental delay
    98609219860921MaleGlobal developmental delay
    98609229860922MaleGlobal developmental delay
    98609239860923MaleGlobal developmental delay
    98609249860924FemaleGlobal developmental delay
    98609259860925FemaleGlobal developmental delay
    98609269860926FemaleGlobal developmental delay
    98609279860927FemaleGlobal developmental delay
    98609289860928MaleGlobal developmental delay
    98609299860929MaleGlobal developmental delay
    98609309860930MaleGlobal developmental delay
    98609319860931MaleGlobal developmental delay
    98609329860932MaleGlobal developmental delay
    98609339860933MaleGlobal developmental delay
    98609349860934FemaleGlobal developmental delay
    98609359860935FemaleGlobal developmental delay
    98609369860936FemaleGlobal developmental delay
    98609449860944MaleGlobal developmental delay
    98609469860946MaleGlobal developmental delay
    98609519860951MaleGlobal developmental delay
    Sampleset ID:
    2
    Name:
    ARIC
    Sampleset Type:
    Control
    Description:
    The Atherosclerosis Risk in Communities (ARIC) Cohort Component. Affymetrix SNP6. dbGaP:phs000090
    Size:
    8,733 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
    Sampleset ID:
    3
    Name:
    WTCCC2 (58C)
    Sampleset Type:
    Control
    Description:
    Wellcome Trust Case Control Consortium 1958 British Birth Cohort. Affymetrix SNP6. PMID:20360734; study: https://www.wtccc.org.uk/
    Size:
    2,523 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoveryOligo aCGHProbe signal intensitySignatureChip OS29,415
    2DiscoverySNP arrayProbe signal intensityAffymetrix SNP Array 6.0225,558
    3DiscoverySNP arrayProbe signal intensityAffymetrix SNP Array 6.063,802

    Validations

    No validation data were submitted for this study.

    Support Center