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Items: 1 to 20 of 305

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148151copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,486,532-37,745,203 , GRCh37.p13 chr17: 34,900,240-35,888,667 PIGW, LOC105371751, 32 more genes
    nsv7148119copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,752,221-36,105,007 , GRCh38.p12 chr17|NT_187614.1: 694,163-1,984,072 , GRCh38.p12 chr17: 36,446,545-37,745,016 LOC105371756, SYNRG, 35 more genes
    nsv7137104copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,842,545-36,293,050 , GRCh38.p12 chr17: 36,486,701-37,933,506 , GRCh38.p12 chr17|NT_187614.1: 721,605-2,172,115 LHX1-DT, LOC105371749, 40 more genes
    nsv7098907copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,138,501-37,924,067 , GRCh37.p13 chr17: 34,900,240-35,888,667 LOC102723414, SYNRG, 51 more genes
    nsv7098735copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 34,842,542-36,104,877 , GRCh38.p12 chr17: 36,486,698-37,744,886 , GRCh38.p12 chr17|NT_187614.1: 721,602-1,983,942 ACACA, LHX1, 34 more genes
    nsv7073998inversion1nstd229human GRCh38 chr17: 32,918,710-41,148,753 , GRCh37.p13 chr17: 31,245,728-39,305,005 LOC105371750, C17orf78, 298 more genes
    nsv6980247copy number variation1nstd229human GRCh38 chr17: 36,753,135-37,596,834 , GRCh37.p13 chr17: 35,168,060-35,888,667 HMGB1P24, SNORA90, 14 more genes
    nsv6637369copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,425,363-36,404,555 , GRCh38.p12 chr17|NT_187614.1: 332,891-2,283,620 CCL3L3, MRM1, 63 more genes
    nsv6634438copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,842,544-36,104,875 , GRCh38.p12 chr17: 36,486,700-37,744,884 , GRCh38.p12 chr17|NT_187614.1: 721,604-1,983,940 HNF1B, LOC100419621, 34 more genes
    nsv6634420copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,822,465-36,243,781 , GRCh38.p12 chr17|NT_187614.1: 701,523-2,122,846 , GRCh38.p12 chr17: 36,466,619-37,884,161 GGNBP2, AATF, 36 more genes
    nsv6624272copy number variation1nstd224human GRCh37 chr17: 34,815,551-36,249,430 , GRCh38.p12 chr17: 36,459,737-37,889,808 , GRCh38.p12 chr17|NT_187614.1: 694,641-2,128,495 DDX52, DUSP14, 36 more genes
    nsv6623850copy number variation1nstd224human GRCh37 chr17: 34,815,551-36,411,684 , GRCh38.p12 chr17|NT_187614.1: 694,641-2,290,749 LHX1, HNF1B, 44 more genes
    nsv6315528copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,463,923-36,410,559 , GRCh38.p12 chr17|NT_187614.1: 371,451-2,289,624 LOC105371750, DDX52, 60 more genes
    nsv6314790copy number variation1nstd220human GRCh37 chr17: 34,710,859-36,306,985 , GRCh38.p12 chr17: 36,446,545-38,150,935 , GRCh38.p12 chr17|NT_187614.1: 694,163-2,186,050 ACACA, LHX1, 49 more genes
    nsv6310168copy number variation4nstd102humanPathogenic, Uncertain significance GRCh37 chr17: 34,892,951-36,104,875 , GRCh38.p12 chr17: 36,537,102-37,744,884 , GRCh38.p12 chr17|NT_187614.1: 772,006-1,983,940 MIR2909, LOC105379600, 30 more genes
    nsv6291831copy number variation1nstd102humanUncertain significance GRCh38 chr17: 36,719,878-37,889,304 , GRCh37.p13 chr17: 35,107,642-35,888,667 LOC105371755, LOC100419621, 23 more genes
    nsv6290333copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 34,807,069-36,284,994 , GRCh38.p12 chr17: 36,459,259-37,925,449 , GRCh38.p12 chr17|NT_187614.1: 694,163-2,164,059 ACACA, LHX1, 40 more genes
    nsv6145850copy number variation1nstd206human GRCh38 chr17: 36,095,490-38,260,000 , GRCh37.p13 chr17: 34,422,828-36,416,003 , PIGW, 70 more genes
    nsv6133308copy number variation1nstd213human GRCh37 chr17: 34,800,000-36,230,001 , GRCh38.p12 chr17: 36,459,259-37,870,383 , GRCh38.p12 chr17|NT_187614.1: 694,163-2,109,066 ACACA, LHX1, 36 more genes
    nsv6133307copy number variation1nstd213human GRCh37 chr17: 34,740,000-36,710,001 , GRCh38.p12 chr17: 36,371,412-38,545,803 , GRCh38.p12 chr17|NT_187614.1: 694,163-2,589,067 TADA2A, SYNRG, 64 more genes
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