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Items: 1 to 20 of 79

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5924818copy number variation1nstd209human GRCh38 chr11: 72,235,081-72,241,029 , GRCh37.p13 chr11: 71,946,125-71,952,073 INPPL1, PHOX2A
    nsv5866870copy number variation1nstd209human GRCh38 chr11: 72,235,014-72,240,841 , GRCh37.p13 chr11: 71,946,058-71,951,885 PHOX2A, INPPL1
    nsv5851853copy number variation1nstd209human GRCh38 chr11: 72,237,214-72,240,841 , GRCh37.p13 chr11: 71,948,258-71,951,885 INPPL1, PHOX2A
    nsv5380796copy number variation1nstd102humanPathogenic GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397 FAUP4, MMP7, 2031 more genes
    nsv4987254copy number variation1nstd200human GRCh38 chr11: 72,229,777-72,237,200 , GRCh37.p13 chr11: 71,940,821-71,948,244 PHOX2A, INPPL1
    nsv4841400copy number variation1nstd200human GRCh37 chr11: 71,940,821-71,948,244 , GRCh38.p12 chr11: 72,229,777-72,237,200 INPPL1, PHOX2A
    nsv4609592copy number variation1nstd183human GRCh37 chr11: 71,952,267-71,953,590 , GRCh38.p12 chr11: 72,241,223-72,242,546 PHOX2A
    nsv3960869insertion1nstd168human GRCh38 chr11: 72,234,755-72,290,391 , GRCh37.p13 chr11: 71,945,799-72,001,435 PHOX2A, INPPL1, 3 more genes
    nsv3921153copy number variation1nstd102humanUncertain significance GRCh38 chr11: 71,164,008-72,309,374 , GRCh37 chr11: 71,088,949-72,020,418 , NCBI36 chr11: 70,552,702-71,698,066 LOC220077, PHOX2A, 47 more genes
    nsv3919985copy number variation1nstd102humanPathogenic NCBI36 chr11: 70,668,528-72,528,680 , GRCh37.p13 chr11: 70,990,880-72,851,032 , GRCh38.p12 chr11: 71,279,834-73,139,987 OR7E128P, OR7E87P, 68 more genes
    nsv3916301copy number variation1nstd102humanPathogenic GRCh38 chr11: 71,928,796-77,064,521 , GRCh37 chr11: 71,639,842-76,751,808 , NCBI36 chr11: 71,317,490-76,453,216 RN7SL786P, LIPT2-AS1, 146 more genes
    nsv3915804copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,680,927-77,943,941 , NCBI36 chr11: 71,358,575-77,621,589 , GRCh38 chr11: 71,969,881-78,232,895 TPBGL, MAP6, 173 more genes
    nsv3908873copy number variation2nstd102humanPathogenic GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576 IGHMBP2, SYTL2, 2829 more genes
    nsv3900144copy number variation1nstd102humanPathogenic GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169 RTN3, KRTAP5-13P, 2833 more genes
    nsv3898361copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,588,805-116,680,918 , GRCh38.p12 chr11: 71,877,759-116,810,202 SESN3, LOC107984352, 694 more genes
    nsv3893233copy number variation1nstd102humanPathogenic GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576 LOC105376598, OSBPL9P2, 2842 more genes
    nsv3237260insertion2nstd152human GRCh38 chr11: 72,234,755-72,289,488 , GRCh37.p13 chr11: 71,945,799-72,000,532 PHOX2A, INPPL1, 3 more genes
    nsv3225183copy number variation1nstd152human GRCh38 chr11: 72,241,249-72,244,512 , GRCh37.p13 chr11: 71,952,293-71,955,556 PHOX2A
    nsv3142081copy number variation1nstd151human GRCh37 chr11: 71,668,270-74,638,536 , GRCh38.p12 chr11: 71,957,224-74,927,491 , RPL36AP38, 92 more genes
    nsv1595954short tandem repeat1nstd128human GRCh37 chr11: 71,955,056-71,955,073 , GRCh38.p12 chr11: 72,244,012-72,244,029 PHOX2A
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