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Items: 1 to 20 of 166

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094979copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr17: 48,068,881-48,278,874 , GRCh38.p12 chr17: 49,991,517-50,201,513 PICART1, H1-9P, 8 more genes
    nsv7058619inversion1nstd229human GRCh38 chr17: 49,389,100-51,159,770 , GRCh37.p13 chr17: 47,466,462-49,237,131 H1-9P, FLJ45513, 59 more genes
    nsv6989106copy number variation1nstd229human GRCh38 chr17: 50,093,589-50,103,024 , GRCh37.p13 chr17: 48,170,953-48,180,388 PDK2
    nsv6986384copy number variation1nstd229human GRCh38 chr17: 49,089,556-55,863,152 , GRCh37.p13 chr17: 47,166,918-53,940,513 LOC107985002, FAM117A, 107 more genes
    nsv6532636copy number variation1nstd223human GRCh38 chr17: 50,093,589-50,103,023 , GRCh37.p13 chr17: 48,170,953-48,180,387 PDK2
    nsv6518324copy number variation1nstd223human GRCh38 chr17: 50,111,906-50,113,524 , GRCh37.p13 chr17: 48,189,270-48,190,888 PDK2, SAMD14
    nsv6133066copy number variation1nstd213human GRCh37 chr17: 48,190,000-48,270,001 , GRCh38.p12 chr17: 50,112,636-50,192,640 COL1A1, PDK2, 5 more genes
    nsv5711370mobile element insertion1nstd211human GRCh38 chr17: 50,102,751-50,102,751 , GRCh37.p13 chr17: 48,180,115-48,180,115 PDK2
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5414377mobile element insertion1nstd206human GRCh38 chr17: 50,102,751-50,102,802 , GRCh37.p13 chr17: 48,180,115-48,180,166 PDK2
    nsv5358925translocation1nstd200human GRCh38 chr17: 50,104,678-50,104,678 , GRCh38 chr17: 50,104,606-50,104,606 , GRCh37.p13 chr17: 48,182,042-48,182,042 , GRCh37.p13 chr17: 48,181,970-48,181,970 PDK2
    nsv5333033translocation1nstd200human GRCh37 chr17: 48,182,042-48,182,042 , GRCh37 chr17: 48,181,970-48,181,970 , GRCh38.p12 chr17: 50,104,678-50,104,678 , GRCh38.p12 chr17: 50,104,606-50,104,606 PDK2
    nsv5026377copy number variation1nstd200human GRCh38 chr17: 50,111,909-50,113,524 , GRCh37.p13 chr17: 48,189,273-48,190,888 PDK2, SAMD14
    nsv4544095insertion1nstd166human GRCh37.p13 chr17: 48,180,099-48,180,099 , GRCh38.p12 chr17: 50,102,735-50,102,735 PDK2
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4253734copy number variation1nstd166human GRCh37.p13 chr17: 48,181,970-48,182,042 , GRCh38.p12 chr17: 50,104,606-50,104,678 PDK2
    nsv3969880insertion1nstd168human GRCh38 chr17: 49,988,339-50,118,075 , GRCh37.p13 chr17: 48,065,703-48,195,439 DLX3, ITGA3, 3 more genes
    nsv3921455copy number variation1nstd102humanPathogenic NCBI36 chr17: 44,793,516-45,701,800 , GRCh37 chr17: 47,438,517-48,346,801 , GRCh38 chr17: 49,361,155-50,269,440 DLX4, H1-9P, 32 more genes
    nsv3920880copy number variation1nstd102humanPathogenic GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970 LOC107984983, LOC102724732, 85 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
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