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Items: 1 to 20 of 173

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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
    nsv6995258copy number variation1nstd229human GRCh38 chr17: 50,122,698-50,125,075 , GRCh37.p13 chr17: 48,200,062-48,202,439 SAMD14
    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
    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
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5296436copy number variation1nstd204human GRCh38.p13 chr17: 50,122,001-50,126,600 , GRCh37.p13 chr17: 48,199,365-48,203,964 SAMD14
    nsv5026378copy number variation1nstd200human GRCh38 chr17: 50,113,420-50,114,583 , GRCh37.p13 chr17: 48,190,784-48,191,947 SAMD14
    nsv5026377copy number variation1nstd200human GRCh38 chr17: 50,111,909-50,113,524 , GRCh37.p13 chr17: 48,189,273-48,190,888 PDK2, SAMD14
    nsv4513425mobile element insertion1nstd166human GRCh37.p13 chr17: 48,202,346-48,202,346 , GRCh38.p12 chr17: 50,124,982-50,124,982 SAMD14
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    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
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3912763copy number variation1nstd102humanPathogenic NCBI36 chr17: 44,570,225-47,580,169 , GRCh37 chr17: 47,215,226-50,225,170 , GRCh38 chr17: 49,137,864-52,147,810 CACNA1G, SUMO2P7, 77 more genes
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3911563copy number variation1nstd102humanPathogenic NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214 PLEKHH3, CHCT1, 958 more genes
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