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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5939275copy number variation1nstd209human GRCh38 chr17: 44,943,266-44,944,408 , GRCh37.p13 chr17: 43,020,634-43,021,776 KIF18B
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5526926copy number variation1nstd206human GRCh38 chr17: 44,923,424-44,925,179 , GRCh37.p13 chr17: 43,000,792-43,002,547 KIF18B, LOC105371793
    nsv5526790copy number variation1nstd206human GRCh38 chr17: 44,931,579-44,932,677 , GRCh37.p13 chr17: 43,008,947-43,010,045 MIR6783, KIF18B
    nsv5374936translocation1nstd200human GRCh38 chr17: 44,925,179-44,925,179 , GRCh38 chr17: 44,923,828-44,923,828 , GRCh37.p13 chr17: 43,002,547-43,002,547 , GRCh37.p13 chr17: 43,001,196-43,001,196 KIF18B, LOC105371793
    nsv5198405mobile element insertion1nstd203human GRCh38 chr17: 44,925,785-44,925,785 , GRCh37.p13 chr17: 43,003,153-43,003,153 KIF18B
    nsv5016552copy number variation1nstd200human GRCh38 chr17: 44,936,706-44,936,765 , GRCh37.p13 chr17: 43,014,074-43,014,133 KIF18B
    nsv5016551copy number variation1nstd200human GRCh38 chr17: 44,931,579-44,932,677 , GRCh37.p13 chr17: 43,008,947-43,010,045 KIF18B, MIR6783
    nsv4618892copy number variation2nstd183human GRCh37 chr17: 43,001,518-43,002,446 , GRCh38.p12 chr17: 44,924,150-44,925,078 LOC105371793, KIF18B
    nsv4419367copy number variation1nstd174human GRCh37 chr17: 43,001,155-43,002,556 , GRCh38.p12 chr17: 44,923,787-44,925,188 LOC105371793, KIF18B
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4270457copy number variation1nstd166human GRCh37.p13 chr17: 43,014,151-43,014,276 , GRCh38.p12 chr17: 44,936,783-44,936,908 KIF18B
    nsv4266041copy number variation1nstd166human GRCh37.p13 chr17: 43,001,181-43,002,547 , GRCh38.p12 chr17: 44,923,813-44,925,179 KIF18B, LOC105371793
    nsv3920797copy number variation1nstd102humanPathogenic GRCh37 chr17: 43,005,866-43,377,096 , NCBI36 chr17: 40,361,392-40,732,879 , GRCh38 chr17: 44,928,498-45,299,730 HEXIM2, KIF18B, 18 more genes
    nsv3918486copy number variation1nstd102humanUncertain significance GRCh38 chr17: 44,906,235-45,220,406 , NCBI36 chr17: 40,339,129-40,653,556 , GRCh37 chr17: 42,983,603-43,297,773 GFAP, MIR6783, 16 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
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