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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099226copy number variation1nstd231human GRCh38.p12 chr1: 115,063,638-119,984,872 , GRCh37 chr1: 115,606,259-120,527,495 ATP1A1, CASQ2, 103 more genes
    nsv6640707copy number variation1nstd229human GRCh38 chr1: 117,121,701-117,125,300 , GRCh37.p13 chr1: 117,664,323-117,667,922 TRIM45
    nsv6640706copy number variation1nstd229human GRCh38 chr1: 117,118,101-117,127,900 , GRCh37.p13 chr1: 117,660,723-117,670,522 TRIM45
    nsv6640594copy number variation1nstd229human GRCh38 chr1: 117,108,945-117,112,434 , GRCh37.p13 chr1: 117,651,567-117,655,056 TRIM45
    nsv6640485copy number variation1nstd229human GRCh38 chr1: 116,936,483-117,173,099 , GRCh37.p13 chr1: 117,479,105-117,715,721 CD101, CD101-AS1, 7 more genes
    nsv6636499copy number variation1nstd102humanUncertain significance GRCh37 chr1: 117,590,849-117,994,398 , GRCh38.p12 chr1: 117,048,227-117,451,776 RPS15AP9, CD101-AS1, 6 more genes
    nsv6625102copy number variation1nstd224human GRCh37 chr1: 117,524,022-117,675,943 , GRCh38.p12 chr1: 116,981,400-117,133,321 PTGFRN, TTF2, 4 more genes
    nsv6334222copy number variation1nstd223human GRCh38 chr1: 117,100,223-117,440,236 , GRCh37.p13 chr1: 117,642,845-117,982,858 MAN1A2, TRIM45, 4 more genes
    nsv6326280copy number variation1nstd223human GRCh38 chr1: 117,048,625-117,440,243 , GRCh37.p13 chr1: 117,591,247-117,982,865 VTCN1, RPS15AP9, 6 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6133921copy number variation1nstd213human GRCh37 chr1: 117,510,000-117,770,001 , GRCh38.p12 chr1: 116,967,378-117,227,379 PTGFRN, TTF2, 6 more genes
    nsv6133550copy number variation1nstd213human GRCh37 chr1: 117,260,000-118,670,001 , GRCh38.p12 chr1: 116,717,378-118,127,378 PTGFRN, CD101, 23 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv4894455copy number variation1nstd200human GRCh38 chr1: 117,100,223-117,440,243 , GRCh37.p13 chr1: 117,642,845-117,982,865 TTF2, VTCN1, 4 more genes
    nsv4894453copy number variation1nstd200human GRCh38 chr1: 117,048,575-117,440,289 , GRCh37.p13 chr1: 117,591,197-117,982,911 TTF2, MAN1A2, 6 more genes
    nsv4890949copy number variation1nstd200human GRCh38 chr1: 117,108,944-117,112,434 , GRCh37.p13 chr1: 117,651,566-117,655,056 TRIM45
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
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