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nstd86 (Poultney et al. 2013)

Organism:
Human
Study Type:
Case-Control
Submitter:
Christopher Poultney
Description:
Assessing burden of copy number variation in autism spectrum disorder using whole exome sequences. See Variant Summary counts for nstd86 in dbVar Variant Summary.
Publication(s):
Poultney et al. 2013
dbGaP:
Subjects in this study are not consented to be included in a public DNA archive. To gain access to subject level data, see dbGaP.
dbGaP Release Date:
2012-05-04

Detailed Information: Download 1030 Variant Regions, Download 1386 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_000001.11Chr178101RemappedNC_000001.11
NC_000002.12Chr25569RemappedNC_000002.12
NC_000003.12Chr34656RemappedNC_000003.12
NC_000004.12Chr44562RemappedNC_000004.12
NC_000005.10Chr53538RemappedNC_000005.10
NC_000006.12Chr64965RemappedNC_000006.12
NC_000007.14Chr76593RemappedNC_000007.14
NC_000008.11Chr84260RemappedNC_000008.11
NC_000009.12Chr97082RemappedNC_000009.12
NC_000010.11Chr102741RemappedNC_000010.11
NC_000011.10Chr113743RemappedNC_000011.10
NC_000012.12Chr12168210RemappedNC_000012.12
NC_000013.11Chr131326RemappedNC_000013.11
NC_000014.9Chr143151RemappedNC_000014.9
NC_000015.10Chr152639RemappedNC_000015.10
NC_000016.10Chr164870RemappedNC_000016.10
NC_000017.11Chr176378RemappedNC_000017.11
NC_000018.10Chr181414RemappedNC_000018.10
NC_000019.10Chr1962109RemappedNC_000019.10
NC_000020.11Chr201721RemappedNC_000020.11
NC_000021.9Chr21711RemappedNC_000021.9
NC_000022.11Chr221929RemappedNC_000022.11
NT_187515.1Chr1|NT_187515.111RemappedNT_187515.1
NT_187518.1Chr1|NT_187518.110RemappedNT_187518.1
NW_009646196.1Chr1|NW_009646196.110RemappedNW_009646196.1
NW_014040927.1Chr1|NW_014040927.111RemappedNW_014040927.1
NW_012132915.1Chr2|NW_012132915.125RemappedNW_012132915.1
NT_187678.1Chr3|NT_187678.111RemappedNT_187678.1
NT_187688.1Chr3|NT_187688.111RemappedNT_187688.1
NT_187689.1Chr3|NT_187689.111RemappedNT_187689.1
NT_187690.1Chr3|NT_187690.111RemappedNT_187690.1
NT_187691.1Chr3|NT_187691.111RemappedNT_187691.1
NT_187532.1Chr3|NT_187532.111RemappedNT_187532.1
NT_187649.1Chr3|NT_187649.111RemappedNT_187649.1
NT_187548.1Chr5|NT_187548.111RemappedNT_187548.1
NT_187651.1Chr5|NT_187651.111RemappedNT_187651.1
NW_003315917.2Chr5|NW_003315917.222RemappedNW_003315917.2
NT_187556.1Chr6|NT_187556.111RemappedNT_187556.1
NT_187561.1Chr7|NT_187561.110RemappedNT_187561.1
NT_187562.1Chr7|NT_187562.11011RemappedNT_187562.1
NW_018654715.1Chr7|NW_018654715.111RemappedNW_018654715.1
NT_187576.1Chr8|NT_187576.155RemappedNT_187576.1
NW_018654717.1Chr8|NW_018654717.132RemappedNW_018654717.1
NW_003315934.1Chr10|NW_003315934.112RemappedNW_003315934.1
NW_003315935.1Chr10|NW_003315935.111RemappedNW_003315935.1
NW_011332696.1Chr12|NW_011332696.111RemappedNW_011332696.1
NW_018654718.1Chr12|NW_018654718.113RemappedNW_018654718.1
NT_187600.1Chr14|NT_187600.135RemappedNT_187600.1
NW_018654722.1Chr14|NW_018654722.135RemappedNW_018654722.1
NT_187660.1Chr15|NT_187660.149RemappedNT_187660.1
NW_011332701.1Chr15|NW_011332701.149RemappedNW_011332701.1
NT_187607.1Chr16|NT_187607.145RemappedNT_187607.1
NW_003315945.1Chr16|NW_003315945.110RemappedNW_003315945.1
NW_017852933.1Chr16|NW_017852933.133RemappedNW_017852933.1
NT_187662.1Chr17|NT_187662.111RemappedNT_187662.1
NW_003871093.1Chr17|NW_003871093.110RemappedNW_003871093.1
NT_187613.1Chr17|NT_187613.111RemappedNT_187613.1
NW_003315952.3Chr17|NW_003315952.311RemappedNW_003315952.3
NW_003315953.2Chr17|NW_003315953.222RemappedNW_003315953.2
NW_003871091.1Chr17|NW_003871091.110RemappedNW_003871091.1
NW_003871092.1Chr17|NW_003871092.110RemappedNW_003871092.1
NW_017363819.1Chr17|NW_017363819.112RemappedNW_017363819.1
NT_187693.1Chr19|NT_187693.11020RemappedNT_187693.1
NW_003571061.2Chr19|NW_003571061.2610RemappedNW_003571061.2
NW_003571057.2Chr19|NW_003571057.233RemappedNW_003571057.2
NW_003571058.2Chr19|NW_003571058.233RemappedNW_003571058.2
NW_003571059.2Chr19|NW_003571059.233RemappedNW_003571059.2
NW_003571060.1Chr19|NW_003571060.158RemappedNW_003571060.1
NW_003571056.2Chr19|NW_003571056.233RemappedNW_003571056.2
NW_003571055.2Chr19|NW_003571055.256RemappedNW_003571055.2
NW_003571054.1Chr19|NW_003571054.1711RemappedNW_003571054.1
NW_009646206.1Chr19|NW_009646206.113RemappedNW_009646206.1
NW_014040929.1Chr19|NW_014040929.111RemappedNW_014040929.1
NT_187624.1Chr20|NT_187624.111RemappedNT_187624.1
NT_187682.1Chr22|NT_187682.122RemappedNT_187682.1
NW_004504305.1Chr22|NW_004504305.111RemappedNW_004504305.1
NW_009646207.1Chr22|NW_009646207.101RemappedNW_009646207.1
NW_003315971.2Chr22|NW_003315971.211RemappedNW_003315971.2
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr180107SubmittedNC_000001.10
NC_000002.11Chr25569SubmittedNC_000002.11
NC_000003.11Chr34656SubmittedNC_000003.11
NC_000004.11Chr44562SubmittedNC_000004.11
NC_000005.9Chr53538SubmittedNC_000005.9
NC_000006.11Chr64965SubmittedNC_000006.11
NC_000007.13Chr77097SubmittedNC_000007.13
NC_000008.10Chr84260SubmittedNC_000008.10
NC_000009.11Chr97285SubmittedNC_000009.11
NC_000010.10Chr102741SubmittedNC_000010.10
NC_000011.9Chr113743SubmittedNC_000011.9
NC_000012.11Chr12168210SubmittedNC_000012.11
NC_000013.10Chr131326SubmittedNC_000013.10
NC_000014.8Chr143151SubmittedNC_000014.8
NC_000015.9Chr152639SubmittedNC_000015.9
NC_000016.9Chr164871SubmittedNC_000016.9
NC_000017.10Chr176376SubmittedNC_000017.10
NC_000018.9Chr181414SubmittedNC_000018.9
NC_000019.9Chr1965120SubmittedNC_000019.9
NC_000020.10Chr201718SubmittedNC_000020.10
NC_000021.8Chr21711SubmittedNC_000021.8
NC_000022.10Chr222027SubmittedNC_000022.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr1806581241078511182
NC_000002.11Chr25551110269553407
NC_000003.11Chr34643200156495101
NC_000004.11Chr44543200062557000
NC_000005.9Chr53529300338332003
NC_000006.11Chr64947100165552701
NC_000007.13Chr7705562079765101408
NC_000008.10Chr84234000860521007
NC_000009.11Chr97270002085761323
NC_000010.10Chr102723020241352103
NC_000011.9Chr113736100043403000
NC_000012.11Chr1216816141022101995204
NC_000013.10Chr131313000026260000
NC_000014.8Chr1431195106513092010
NC_000015.9Chr152621100439245109
NC_000016.9Chr164840000871611008
NC_000017.10Chr176354110776681106
NC_000018.9Chr181414000014140000
NC_000019.9Chr19655231091209841015
NC_000020.10Chr201714200118132201
NC_000021.8Chr217520001156000
NC_000022.10Chr222016300127163701

Samplesets

Number of Samplesets: 3

Sampleset ID:
1
Name:
cases
Sampleset Type:
Case
Size:
432
Organisms:
Homo sapiens
Sampleset Phenotype(s):
AUTISM
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 432 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    01HI1936A01HI1936AMaleEuropeanAUTISM
    00HI1675A00HI1675AFemaleEuropeanAUTISM
    00HI1235A00HI1235AMaleEuropeanAUTISM
    00HI1493A00HI1493AMaleEuropeanAUTISM
    00HI1274A00HI1274AMaleEuropeanAUTISM
    00HI1508A00HI1508AMaleEuropeanAUTISM
    00HI1431A00HI1431AMaleEuropeanAUTISM
    00HI1421A00HI1421AFemaleEuropeanAUTISM
    01HI2215A01HI2215AFemaleEuropeanAUTISM
    01HI2020A01HI2020AMaleEuropeanAUTISM
    01HI1872A01HI1872AMaleEuropeanAUTISM
    01HI2153A01HI2153AMaleEuropeanAUTISM
    01HI2078A01HI2078AFemaleEuropeanAUTISM
    01HI2165A01HI2165AMaleEuropeanAUTISM
    01HI2124A01HI2124AFemaleEuropeanAUTISM
    00HI1228A00HI1228AFemaleEuropeanAUTISM
    00HI1663A00HI1663AFemaleEuropeanAUTISM
    00HI1481A00HI1481AMaleEuropeanAUTISM
    01HI2130A01HI2130AMaleEuropeanAUTISM
    01HI2272A01HI2272AMaleEuropeanAUTISM
    01HI1943B01HI1943BMaleEuropeanAUTISM
    00HI1504A00HI1504AFemaleEuropeanAUTISM
    00HI1501A00HI1501AMaleEuropeanAUTISM
    01HI2035A01HI2035AMaleEuropeanAUTISM
    01HI1923A01HI1923AFemaleEuropeanAUTISM
    01HI2098A01HI2098AMaleEuropeanAUTISM
    01HI1937A01HI1937AMaleEuropeanAUTISM
    00HI1252A00HI1252AMaleEuropeanAUTISM
    01HI2115A01HI2115AMaleEuropeanAUTISM
    01HI1926A01HI1926AMaleEuropeanAUTISM
    00HI1742A00HI1742AMaleEuropeanAUTISM
    00HI1326A00HI1326AMaleEuropeanAUTISM
    01HI2126A01HI2126AFemaleEuropeanAUTISM
    01HI2044A01HI2044AMaleEuropeanAUTISM
    01HI2304A01HI2304AMaleEuropeanAUTISM
    01HI2157A01HI2157AMaleEuropeanAUTISM
    01HI2291A01HI2291AMaleEuropeanAUTISM
    01HI2192A01HI2192AMaleEuropeanAUTISM
    01HI2080A01HI2080AMaleEuropeanAUTISM
    00HI1375A00HI1375AFemaleEuropeanAUTISM
    01HI1884A01HI1884AFemaleEuropeanAUTISM
    00HI1717A00HI1717AMaleEuropeanAUTISM
    01HI1861A01HI1861AMaleEuropeanAUTISM
    00HI1548A00HI1548AFemaleEuropeanAUTISM
    01HI2158A01HI2158AMaleEuropeanAUTISM
    01HI2172A01HI2172AFemaleEuropeanAUTISM
    01HI2299A01HI2299AFemaleEuropeanAUTISM
    00HI1256A00HI1256AMaleEuropeanAUTISM
    00HI1529A00HI1529AMaleEuropeanAUTISM
    00HI1581A00HI1581AFemaleEuropeanAUTISM
    01HI2133A01HI2133AFemaleEuropeanAUTISM
    01HI2151A01HI2151AMaleEuropeanAUTISM
    01HI2071A01HI2071AFemaleEuropeanAUTISM
    00HI1331A00HI1331AMaleEuropeanAUTISM
    01HI2184A01HI2184AMaleEuropeanAUTISM
    00HI1465A00HI1465AMaleEuropeanAUTISM
    01HI1953A01HI1953AMaleEuropeanAUTISM
    01HI1941A01HI1941AMaleEuropeanAUTISM
    00HI1208A00HI1208AMaleEuropeanAUTISM
    00HI1441A00HI1441AMaleEuropeanAUTISM
    00HI1422A00HI1422AFemaleEuropeanAUTISM
    00HI1779A00HI1779AMaleEuropeanAUTISM
    01HI1948A01HI1948AMaleEuropeanAUTISM
    00HI1721A00HI1721AMaleEuropeanAUTISM
    00HI1683A00HI1683AMaleEuropeanAUTISM
    01HI2025A01HI2025AMaleEuropeanAUTISM
    00HI1429B00HI1429BMaleEuropeanAUTISM
    00HI1739A00HI1739AFemaleEuropeanAUTISM
    01HI2227A01HI2227AMaleEuropeanAUTISM
    00HI1409C00HI1409CMaleEuropeanAUTISM
    00HI1200A00HI1200AMaleEuropeanAUTISM
    00HI1452A00HI1452AFemaleEuropeanAUTISM
    00HI1714A00HI1714AMaleEuropeanAUTISM
    01HI2010A01HI2010AMaleEuropeanAUTISM
    01HI2176A01HI2176AMaleEuropeanAUTISM
    01HI2326A01HI2326AFemaleEuropeanAUTISM
    00HI1659A00HI1659AMaleEuropeanAUTISM
    00HI1752B00HI1752BFemaleEuropeanAUTISM
    01HI2281B01HI2281BFemaleEuropeanAUTISM
    00HI1396B00HI1396BMaleEuropeanAUTISM
    00HI1787A00HI1787AMaleEuropeanAUTISM
    01HI2344A01HI2344AMaleEuropeanAUTISM
    01HI2161A01HI2161AMaleEuropeanAUTISM
    00HI1575A00HI1575AMaleEuropeanAUTISM
    00HI1404A00HI1404AMaleEuropeanAUTISM
    01HI2242A01HI2242AMaleEuropeanAUTISM
    00HI1555A00HI1555AMaleEuropeanAUTISM
    00HI1587A00HI1587AFemaleEuropeanAUTISM
    01HI1892A01HI1892AMaleEuropeanAUTISM
    00HI1447A00HI1447AMaleEuropeanAUTISM
    01HI2322A01HI2322AMaleEuropeanAUTISM
    00HI1402A00HI1402AFemaleEuropeanAUTISM
    01HI2332A01HI2332AMaleEuropeanAUTISM
    00HI1733A00HI1733AMaleEuropeanAUTISM
    00HI1533A00HI1533AMaleEuropeanAUTISM
    01HI2197A01HI2197AMaleEuropeanAUTISM
    01HI2143A01HI2143AMaleEuropeanAUTISM
    01HI1906A01HI1906AMaleEuropeanAUTISM
    00HI1544A00HI1544AMaleEuropeanAUTISM
    01HI2038A01HI2038AMaleEuropeanAUTISM
    Sampleset ID:
    2
    Name:
    NIHM_controls
    Sampleset Type:
    Control
    Size:
    376
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
  • Download Samples as CSV file
  • Samples for sampleset 2 (displaying 100 of the 376 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    04C27774A04C27774AMaleEuropeanNot reported
    04C29561A04C29561AFemaleEuropeanNot reported
    04C28060A04C28060AMaleEuropeanNot reported
    04C28170A04C28170AFemaleEuropeanNot reported
    04C26794A04C26794AFemaleEuropeanNot reported
    04C31162A04C31162AFemaleEuropeanNot reported
    04C29011A04C29011AFemaleEuropeanNot reported
    04C28300A04C28300AFemaleEuropeanNot reported
    04C29036A04C29036AMaleEuropeanNot reported
    04C29071A04C29071AFemaleEuropeanNot reported
    04C28760A04C28760AFemaleEuropeanNot reported
    04C27095A04C27095AMaleEuropeanNot reported
    04C29320A04C29320AMaleEuropeanNot reported
    04C28080A04C28080AMaleEuropeanNot reported
    04C28409A04C28409AFemaleEuropeanNot reported
    04C30093A04C30093AFemaleEuropeanNot reported
    04C28069A04C28069AFemaleEuropeanNot reported
    04C27199A04C27199AFemaleEuropeanNot reported
    04C29073A04C29073AMaleEuropeanNot reported
    04C28197A04C28197AMaleEuropeanNot reported
    04C29728A04C29728AFemaleEuropeanNot reported
    04C29317A04C29317AFemaleEuropeanNot reported
    04C28665A04C28665AMaleEuropeanNot reported
    04C31229A04C31229AFemaleEuropeanNot reported
    04C30686A04C30686AMaleEuropeanNot reported
    04C28851A04C28851AMaleEuropeanNot reported
    04C30687A04C30687AMaleEuropeanNot reported
    04C29883A04C29883AFemaleEuropeanNot reported
    04C28088A04C28088AFemaleEuropeanNot reported
    04C31118A04C31118AFemaleEuropeanNot reported
    04C27865A04C27865AMaleEuropeanNot reported
    04C29765A04C29765AMaleEuropeanNot reported
    04C29005A04C29005AMaleEuropeanNot reported
    04C29000A04C29000AMaleEuropeanNot reported
    04C28500A04C28500AMaleEuropeanNot reported
    04C27153A04C27153AFemaleEuropeanNot reported
    04C30862A04C30862AMaleEuropeanNot reported
    04C27998A04C27998AMaleEuropeanNot reported
    04C28920A04C28920AMaleEuropeanNot reported
    04C27263A04C27263AMaleEuropeanNot reported
    04C26524A04C26524AMaleEuropeanNot reported
    04C28914A04C28914AMaleEuropeanNot reported
    04C30844A04C30844AFemaleEuropeanNot reported
    04C30242A04C30242AFemaleEuropeanNot reported
    04C30070A04C30070AFemaleEuropeanNot reported
    04C29691B04C29691BMaleEuropeanNot reported
    04C29782A04C29782AMaleEuropeanNot reported
    04C31069A04C31069AMaleEuropeanNot reported
    04C30136A04C30136AFemaleEuropeanNot reported
    04C29638A04C29638AMaleEuropeanNot reported
    04C26516A04C26516AMaleEuropeanNot reported
    04C30935A04C30935AMaleEuropeanNot reported
    04C28575A04C28575AFemaleEuropeanNot reported
    04C27915A04C27915AFemaleEuropeanNot reported
    04C27197A04C27197AMaleEuropeanNot reported
    04C29259A04C29259AMaleEuropeanNot reported
    04C28847A04C28847AFemaleEuropeanNot reported
    04C27734A04C27734AFemaleEuropeanNot reported
    04C29633A04C29633AMaleEuropeanNot reported
    04C29077A04C29077AMaleEuropeanNot reported
    04C28087A04C28087AFemaleEuropeanNot reported
    04C27077A04C27077AFemaleEuropeanNot reported
    04C29918A04C29918AMaleEuropeanNot reported
    04C29639A04C29639AFemaleEuropeanNot reported
    04C28484A04C28484AFemaleEuropeanNot reported
    04C28858A04C28858AFemaleEuropeanNot reported
    04C27518A04C27518AFemaleEuropeanNot reported
    04C30933A04C30933AFemaleEuropeanNot reported
    04C30090A04C30090AFemaleEuropeanNot reported
    04C31067A04C31067AFemaleEuropeanNot reported
    04C26931A04C26931AMaleEuropeanNot reported
    04C30489A04C30489AFemaleEuropeanNot reported
    04C28747A04C28747AFemaleEuropeanNot reported
    04C28567A04C28567AMaleEuropeanNot reported
    04C29553A04C29553AMaleEuropeanNot reported
    04C28291A04C28291AFemaleEuropeanNot reported
    04C28308A04C28308AMaleEuropeanNot reported
    04C29546A04C29546AMaleEuropeanNot reported
    04C27994A04C27994AMaleEuropeanNot reported
    04C31170A04C31170AMaleEuropeanNot reported
    04C27758A04C27758AMaleEuropeanNot reported
    04C29555A04C29555AMaleEuropeanNot reported
    04C30190A04C30190AFemaleEuropeanNot reported
    04C28818A04C28818AMaleEuropeanNot reported
    04C29640A04C29640AMaleEuropeanNot reported
    04C29405A04C29405AFemaleEuropeanNot reported
    04C28294A04C28294AMaleEuropeanNot reported
    04C27511A04C27511AMaleEuropeanNot reported
    04C27523A04C27523AMaleEuropeanNot reported
    04C30249A04C30249AFemaleEuropeanNot reported
    04C28480A04C28480AMaleEuropeanNot reported
    04C27935A04C27935AMaleEuropeanNot reported
    04C27316A04C27316AMaleEuropeanNot reported
    04C27344A04C27344AFemaleEuropeanNot reported
    04C30251A04C30251AMaleEuropeanNot reported
    04C27265A04C27265AFemaleEuropeanNot reported
    04C29016A04C29016AFemaleEuropeanNot reported
    04C29878A04C29878AFemaleEuropeanNot reported
    04C27933A04C27933AMaleEuropeanNot reported
    04C27862A04C27862AFemaleEuropeanNot reported
    Sampleset ID:
    3
    Name:
    CEPH_controls
    Sampleset Type:
    Control
    Size:
    3
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported
  • Download Samples as CSV file
  • Samples for sampleset 3
    Sample IDSubject ID SexEthnicitySubject Phenotype
    NA12892NA12892FemaleEuropeanNot reported
    NA12878NA12878FemaleEuropeanNot reported
    NA12891NA12891MaleEuropeanNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsDataNumber of Variant Calls
    1DiscoverySequencingRead depthIllumina HiSeq 2000dbGaP1,386

    Validations

    No validation data were submitted for this study.

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