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Items: 1 to 20 of 181

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5872089copy number variation1nstd209human GRCh38 chr17: 44,365,973-44,370,280 , GRCh37.p13 chr17: 42,443,341-42,447,648 RPL7L1P5, ITGA2B
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5016522copy number variation1nstd200human GRCh38 chr17: 44,384,206-44,388,825 , GRCh37.p13 chr17: 42,461,574-42,466,193 ITGA2B
    nsv4864674copy number variation1nstd200human GRCh37 chr17: 42,443,271-42,448,031 , GRCh38.p12 chr17: 44,365,903-44,370,663 RPL7L1P5, ITGA2B
    nsv4741238copy number variation1nstd199human GRCh37 chr17: 42,465,055-42,465,138 , GRCh38.p12 chr17: 44,387,687-44,387,770 ITGA2B
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv3919609copy number variation1nstd102humanPathogenic GRCh37 chr17: 41,648,246-42,839,745 , GRCh38 chr17: 43,570,878-44,762,377 , NCBI36 chr17: 39,003,772-40,195,271 SMCO4P1, LINC01180, 59 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
    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
    nsv3911344copy number variation1nstd102humanPathogenic GRCh37 chr17: 37,356,126-43,706,945 , NCBI36 chr17: 34,609,652-41,062,728 , GRCh38 chr17: 39,199,873-45,629,579 IFI35, RND2, 345 more genes
    nsv3910801copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,011,535-42,931,393 , GRCh38 chr17: 43,934,167-44,854,025 , NCBI36 chr17: 39,367,061-40,286,919 G6PC3, ITGA2B, 46 more genes
    nsv3907261copy number variation2nstd102humanPathogenic GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062 SMURF2, LOC112268199, 2366 more genes
    nsv3906245copy number variation1nstd102humanPathogenic GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251 MIR21, LOC105371899, 2366 more genes
    nsv3903684copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004 MIR3185, YWHAEP6, 2366 more genes
    nsv3899740copy number variation1nstd102humanPathogenic GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564 P4HB, LOC105371808, 2366 more genes
    nsv3167586copy number variation1nstd151human GRCh37 chr17: 42,451,719-42,466,846 , GRCh38.p12 chr17: 44,374,351-44,389,478 ITGA2B
    nsv3167329copy number variation1nstd151human GRCh37 chr17: 42,457,611-42,462,582 , GRCh38.p12 chr17: 44,380,243-44,385,214 ITGA2B
    nsv3163358copy number variation1nstd151human GRCh37 chr17: 42,462,313-42,462,708 , GRCh38.p12 chr17: 44,384,945-44,385,340 ITGA2B
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