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Items: 17

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    Number of Variants: 17

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3899914copy number variation1nstd102humanBenign GRCh37 chr17: 42,287,836-42,298,790 , GRCh38.p12 chr17: 44,210,468-44,221,422 UBTF, ATXN7L3-AS1
    nsv3902023copy number variation1nstd102humanBenign GRCh37 chr17: 42,296,396-42,298,201 , GRCh38.p12 chr17: 44,219,028-44,220,833 UBTF, ATXN7L3-AS1
    nsv3908890copy number variation1nstd102humanBenign GRCh37 chr17: 42,296,594-42,297,573 , GRCh38.p12 chr17: 44,219,226-44,220,205 UBTF, ATXN7L3-AS1
    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 ATXN7L3, PRPSAP1, 1350 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 ATXN7L3, SMCO4P1, 59 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 ATXN7L3, G6PC3, 46 more genes
    nsv3903684copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004 ATXN7L3, MIR3185, 2366 more genes
    nsv3899740copy number variation1nstd102humanPathogenic GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564 ATXN7L3, P4HB, 2366 more genes
    nsv3906245copy number variation1nstd102humanPathogenic GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251 ATXN7L3, MIR21, 2366 more genes
    nsv3907261copy number variation2nstd102humanPathogenic GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062 ATXN7L3, SMURF2, 2366 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 ATXN7L3, LOC105371922, 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 ATXN7L3, RNU6-131P, 1075 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 ATXN7L3, PLEKHH3, 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 ATXN7L3, IFI35, 345 more genes
    nsv3909167copy number variation1nstd102humanBenign GRCh37 chr17: 42,245,241-42,332,803 , GRCh38.p12 chr17: 44,167,873-44,255,435 ATXN7L3, SHC1P2, 7 more genes
    nsv4681862copy number variation1nstd102humanUncertain significance GRCh37 chr17: 42,105,175-42,430,244 , GRCh38.p12 chr17: 44,027,807-44,352,876 ATXN7L3, G6PC3, 21 more genes
    nsv6291646copy number variation1nstd102humanUncertain significance GRCh37 chr17: 42,085,508-42,361,563 , GRCh38.p12 chr17: 44,008,140-44,284,195 ATXN7L3, LOC105371790, 16 more genes
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