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Items: 1 to 20 of 226

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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
    nsv6640701copy number variation1nstd229human GRCh38 chr1: 116,952,801-116,955,800 , GRCh37.p13 chr1: 117,495,423-117,498,422 PTGFRN
    nsv6640589copy number variation1nstd229human GRCh38 chr1: 116,961,955-116,965,643 , GRCh37.p13 chr1: 117,504,577-117,508,265 PTGFRN, RNA5SP55
    nsv6640583copy number variation1nstd229human GRCh38 chr1: 116,749,901-116,930,500 , GRCh37.p13 chr1: 117,292,523-117,473,122 PTGFRN, LOC105378927, 2 more genes
    nsv6640486copy number variation1nstd229human GRCh38 chr1: 116,988,401-117,000,900 , GRCh37.p13 chr1: 117,531,023-117,543,522 PTGFRN, CD101
    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
    nsv6640484copy number variation1nstd229human GRCh38 chr1: 116,933,801-117,004,500 , GRCh37.p13 chr1: 117,476,423-117,547,122 RNA5SP55, CD101, 1 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
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6330053copy number variation1nstd223human GRCh38 chr1: 116,961,955-116,965,640 , GRCh37.p13 chr1: 117,504,577-117,508,262 PTGFRN, RNA5SP55
    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
    nsv5610396insertion1nstd207human GRCh38 chr1: 116,986,977-116,986,977 , GRCh37.p13 chr1: 117,529,599-117,529,599 PTGFRN, CD101
    nsv5423904copy number variation1nstd206human GRCh38 chr1: 116,915,050-116,915,706 , GRCh37.p13 chr1: 117,457,672-117,458,328 PTGFRN
    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
    nsv5168731mobile element insertion1nstd203human GRCh38 chr1: 116,929,160-116,929,175 , GRCh37.p13 chr1: 117,471,782-117,471,797 PTGFRN
    nsv5068908mobile element insertion1nstd203human GRCh38 chr1: 116,961,153-116,961,165 , GRCh37.p13 chr1: 117,503,775-117,503,787 PTGFRN, RNA5SP55
    nsv4890946copy number variation1nstd200human GRCh38 chr1: 116,974,588-116,977,308 , GRCh37.p13 chr1: 117,517,210-117,519,930 PTGFRN
    nsv4890945copy number variation1nstd200human GRCh38 chr1: 116,961,955-116,965,640 , GRCh37.p13 chr1: 117,504,577-117,508,262 PTGFRN, RNA5SP55
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