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Items: 1 to 20 of 265

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5958456insertion1nstd209human GRCh38 chr5: 115,868,916-115,868,916 , GRCh37.p13 chr5: 115,204,613-115,204,613 AP3S1
    nsv5892601copy number variation1nstd209human GRCh38 chr5: 115,902,990-115,913,358 , GRCh37.p13 chr5: 115,238,687-115,249,055 AP3S1
    nsv5684997mobile element insertion1nstd211human GRCh38 chr5: 115,855,855-115,855,855 , GRCh37.p13 chr5: 115,191,552-115,191,552 AP3S1
    nsv5680894mobile element insertion2nstd211human GRCh38 chr5: 115,878,937-115,878,937 , GRCh37.p13 chr5: 115,214,634-115,214,634 AP3S1
    nsv5550716insertion1nstd206human GRCh38 chr5: 115,880,505-115,880,571 , GRCh37.p13 chr5: 115,216,202-115,216,268 AP3S1
    nsv5402245mobile element insertion1nstd206human GRCh38 chr5: 115,878,937-115,878,988 , GRCh37.p13 chr5: 115,214,634-115,214,685 AP3S1
    nsv5394666mobile element insertion1nstd206human GRCh38 chr5: 115,855,855-115,855,906 , GRCh37.p13 chr5: 115,191,552-115,191,603 AP3S1
    nsv5373647translocation1nstd200human GRCh38 chr1: 214,483,430-214,483,430 , GRCh38 chr5: 115,842,109-115,842,109 , GRCh37.p13 chr1: 214,656,773-214,656,773 , GRCh37.p13 chr5: 115,177,806-115,177,806 AP3S1, PTPN14, 1 more genes
    nsv5340691translocation1nstd200human GRCh37 chr1: 214,656,773-214,656,773 , GRCh37 chr5: 115,177,806-115,177,806 , GRCh38.p12 chr1: 214,483,430-214,483,430 , GRCh38.p12 chr5: 115,842,109-115,842,109 , GRCh38.p12 chr16|NW_013171813.1: 156,620-156,620 AP3S1, PTPN14, 3 more genes
    nsv5322402translocation1nstd204human GRCh37.p13 chr5: 115,177,806-115,177,806 , GRCh38.p13 chr5: 115,842,109-115,842,109 , GRCh38.p13 chr1: 214,483,430-214,483,430 , GRCh37.p13 chr1: 214,656,773-214,656,773 AP3S1, PTPN14, 1 more genes
    nsv5097412mobile element insertion1nstd203human GRCh38 chr5: 115,878,936-115,878,940 , GRCh37.p13 chr5: 115,214,633-115,214,637 AP3S1
    nsv5093136mobile element insertion1nstd203human GRCh38 chr5: 115,884,661-115,884,675 , GRCh37.p13 chr5: 115,220,358-115,220,372 AP3S1
    nsv5087840mobile element insertion1nstd203human GRCh38 chr5: 115,855,844-115,855,855 , GRCh37.p13 chr5: 115,191,541-115,191,552 AP3S1
    nsv5087665mobile element insertion1nstd203human GRCh38 chr5: 115,878,921-115,878,937 , GRCh37.p13 chr5: 115,214,618-115,214,634 AP3S1
    nsv5036421inversion1nstd200human GRCh38 chr5: 85,193,812-162,906,830 , GRCh37.p13 chr5: 84,489,630-162,333,836 , PRR16, 1116 more genes
    nsv5034346inversion1nstd200human GRCh38 chr5: 99,223,339-135,778,784 , GRCh37.p13 chr5: 98,559,043-135,114,473 , NUDT12, 438 more genes
    nsv4947215copy number variation1nstd200human GRCh38 chr5: 93,957,557-155,223,076 , GRCh37.p13 chr5: 93,293,262-154,602,636 , TGFBI, 937 more genes
    nsv4944948copy number variation1nstd200human GRCh38 chr5: 115,887,234-116,116,023 , GRCh37.p13 chr5: 115,222,931-115,451,720 LVRN, RPS25P6, 5 more genes
    nsv4885569inversion1nstd200human GRCh37 chr5: 84,489,636-162,333,841 , GRCh38.p12 chr5: 85,193,818-162,906,835 , UBE2B, 1116 more genes
    nsv4872282inversion1nstd200human GRCh37 chr5: 98,106,197-132,803,784 , GRCh38.p12 chr5: 98,770,493-133,468,092 , LEAP2, 395 more genes
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