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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5931180copy number variation1nstd209human GRCh38 chr17: 4,931,035-4,931,104 , GRCh37.p13 chr17: 4,834,330-4,834,399 GP1BA
    nsv5588680copy number variation1nstd207human GRCh38 chr17: 4,933,822-4,933,899 , GRCh37.p13 chr17: 4,837,117-4,837,194 GP1BA
    nsv5519986copy number variation1nstd206human GRCh38 chr17: 4,931,040-4,931,105 , GRCh37.p13 chr17: 4,834,335-4,834,400 GP1BA
    nsv5345022translocation1nstd200human GRCh37 chr17: 4,834,400-4,834,400 , GRCh37 chr17: 4,834,335-4,834,335 , GRCh38.p12 chr17: 4,931,040-4,931,040 , GRCh38.p12 chr17: 4,931,105-4,931,105 GP1BA
    nsv5283967copy number variation1nstd204human GRCh38.p13 chr17: 4,830,501-5,066,500 , GRCh37.p13 chr17: 4,733,796-4,969,795 , RN7SL784P, 20 more genes
    nsv4762422inversion1nstd199human GRCh37 chr17: 151-36,202,676 , GRCh38.p12 chr17: 150,358-36,446,544 , ABR, 1046 more genes
    nsv4734890copy number variation1nstd199human GRCh37 chr17: 4,837,136-4,837,215 , GRCh38.p12 chr17: 4,933,841-4,933,920 GP1BA
    nsv4683556copy number variation2nstd102humanUncertain significance GRCh37 chr17: 4,802,021-4,927,456 , GRCh38.p12 chr17: 4,898,726-5,024,161 CHRNE, SPAG7, 13 more genes
    nsv4682665copy number variation1nstd102humanPathogenic GRCh37 chr17: 4,802,021-4,851,699 , GRCh38.p12 chr17: 4,898,726-4,948,404 CHRNE, ENO3, 5 more genes
    nsv4674912copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,547-5,627,408 , GRCh38.p12 chr17: 158,756-5,724,088 SRR, DBIL5P, 196 more genes
    nsv4637500copy number variation1nstd186human GRCh37 chr17: 4,833,781-4,833,980 , GRCh38.p12 chr17: 4,930,486-4,930,685 GP1BA
    nsv4630208copy number variation1nstd183human GRCh37 chr17: 4,486,568-5,620,052 , GRCh38.p12 chr17: 4,583,273-5,716,732 , ARRB2, 59 more genes
    nsv4530862copy number variation1nstd166human GRCh37.p13 chr17: 4,833,781-4,833,980 , GRCh38.p12 chr17: 4,930,486-4,930,685 GP1BA
    nsv4457587copy number variation1nstd102humanUncertain significance GRCh37 chr17: 3,759,126-6,128,911 , GRCh38.p12 chr17: 3,855,832-6,225,591 DERL2, ZZEF1, 82 more genes
    nsv4452615copy number variation1nstd102humanUncertain significance GRCh38 chr17: 4,898,716-4,946,840 , GRCh37 chr17: 4,802,011-4,850,135 RNF167, C17orf107, 4 more genes
    nsv4422247copy number variation1nstd174human GRCh37 chr17: 4,836,679-4,837,541 , GRCh38.p12 chr17: 4,933,384-4,934,246 GP1BA
    nsv4416865copy number variation1nstd174human GRCh37 chr17: 4,771,612-4,845,857 , GRCh38.p12 chr17: 4,868,317-4,942,562 CHRNE, GP1BA, 5 more genes
    nsv4350781copy number variation1nstd102humanPathogenic GRCh37 chr17: 47,546-6,287,620 , GRCh38.p12 chr17: 197,755-6,384,300 SERPINF1, UBE2G1, 201 more genes
    nsv3934422copy number variation1nstd167human GRCh37 chr17: 4,837,117-4,837,195 , GRCh38.p12 chr17: 4,933,822-4,933,900 GP1BA
    nsv3923881copy number variation1nstd102humanPathogenic NCBI36 chr17: 48,539-4,989,051 , GRCh37.p13 chr17: 48,539-5,048,327 , GRCh38.p12 chr17: 198,748-5,145,032 CAMKK1, MIR6776, 177 more genes
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