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Items: 1 to 20 of 160

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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
    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
    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
    nsv5873094copy number variation1nstd209human GRCh38 chr17: 50,141,766-50,143,865 , GRCh37.p13 chr17: 48,219,131-48,221,230 PPP1R9B
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5523961copy number variation1nstd206human GRCh38 chr17: 50,133,926-50,133,982 , GRCh37.p13 chr17: 48,211,290-48,211,346 PPP1R9B
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4267008copy number variation1nstd166human GRCh37.p13 chr17: 48,225,740-48,226,123 , GRCh38.p12 chr17: 50,148,375-50,148,758 PPP1R9B
    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
    nsv3909511copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846 FOXK2, SOCS3-DT, 958 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
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