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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5931817copy number variation1nstd209human GRCh38 chr17: 4,964,804-4,964,977 , GRCh37.p13 chr17: 4,868,099-4,868,272 SPAG7
    nsv5515974copy number variation1nstd206human GRCh38 chr17: 4,957,529-4,959,025 , GRCh37.p13 chr17: 4,860,824-4,862,320 SPAG7, ENO3
    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
    nsv5159392mobile element insertion1nstd203human GRCh38 chr17: 4,964,774-4,964,774 , GRCh37.p13 chr17: 4,868,069-4,868,069 SPAG7
    nsv4857834copy number variation1nstd200human GRCh37 chr17: 4,866,104-4,866,956 , GRCh38.p12 chr17: 4,962,809-4,963,661 SPAG7
    nsv4762422inversion1nstd199human GRCh37 chr17: 151-36,202,676 , GRCh38.p12 chr17: 150,358-36,446,544 , ABR, 1046 more genes
    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
    nsv4674912copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,547-5,627,408 , GRCh38.p12 chr17: 158,756-5,724,088 SRR, DBIL5P, 196 more genes
    nsv4673519copy number variation1nstd186human GRCh37 chr17: 4,860,734-4,862,269 , GRCh38.p12 chr17: 4,957,439-4,958,974 SPAG7, ENO3
    nsv4630208copy number variation1nstd183human GRCh37 chr17: 4,486,568-5,620,052 , GRCh38.p12 chr17: 4,583,273-5,716,732 , ARRB2, 59 more genes
    nsv4630131copy number variation1nstd183human GRCh37 chr17: 4,860,734-4,862,269 , GRCh38.p12 chr17: 4,957,439-4,958,974 ENO3, SPAG7
    nsv4457731copy number variation1nstd102humanUncertain significance GRCh37 chr17: 4,845,435-5,097,302 , GRCh38.p12 chr17: 4,942,140-5,194,007 ZNF594, ZNF232, 18 more genes
    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
    nsv4350781copy number variation1nstd102humanPathogenic GRCh37 chr17: 47,546-6,287,620 , GRCh38.p12 chr17: 197,755-6,384,300 SERPINF1, UBE2G1, 201 more genes
    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
    nsv3923152copy number variation1nstd102humanPathogenic NCBI36 chr17: 3,451,558-7,022,067 , GRCh38 chr17: 3,601,515-7,178,024 , GRCh37 chr17: 3,504,809-7,081,343 PSMB6, NUP88, 133 more genes
    nsv3922546copy number variation1nstd102humanPathogenic NCBI36 chr17: 525-5,779,421 , GRCh38 chr17: 150,732-5,935,377 , GRCh37 chr17: 525-5,838,697 CHRNE, SPNS2-AS1, 198 more genes
    nsv3920795copy number variation1nstd102humanPathogenic GRCh38 chr17: 2,062,380-5,258,340 , NCBI36 chr17: 1,912,424-5,102,359 , GRCh37 chr17: 1,965,674-5,161,635 LINC01996, OR3A1, 128 more genes
    nsv3919907copy number variation1nstd102humanLikely benign GRCh38 chr17: 4,092,608-5,354,473 , GRCh37 chr17: 3,995,902-5,257,768 , NCBI36 chr17: 3,942,651-5,198,492 RPS12P29, RN7SL774P, 59 more genes
    nsv3917777copy number variation1nstd102humanPathogenic GRCh37 chr17: 50,690-7,394,448 , GRCh38 chr17: 198,748-7,491,129 , NCBI36 chr17: 48,539-7,335,172 PAFAH1B1, PELP1-DT, 267 more genes
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