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Items: 1 to 20 of 428

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148108copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,095,256-15,492,591 , GRCh38.p12 chr17: 14,191,939-15,589,277 LOC105371545, TVP23C, 25 more genes
    nsv7148090copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,095,256-15,477,547 , GRCh38.p12 chr17: 14,191,939-15,574,233 TEKT3, CDRT15, 25 more genes
    nsv7098896copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,095,306-15,472,344 , GRCh38.p12 chr17: 14,191,989-15,569,030 CDRT4, LOC105371547, 25 more genes
    nsv7093401copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,110,127-15,472,344 , GRCh38.p12 chr17: 14,206,810-15,569,030 HS3ST3B1, PMP22, 25 more genes
    nsv7059177inversion1nstd229human GRCh38 chr17: 15,493,473-18,338,296 , GRCh37.p13 chr17: 15,396,787-18,241,610 TOM1L2, PPIAP53, 107 more genes
    nsv6997829copy number variation1nstd229human GRCh38 chr17: 15,585,701-15,587,600 , GRCh37.p13 chr17: 15,489,015-15,490,914 FBXW10B
    nsv6997543copy number variation1nstd229human GRCh38 chr17: 15,574,953-15,581,889 , GRCh37.p13 chr17: 15,478,267-15,485,203 FBXW10B
    nsv6996715copy number variation1nstd229human GRCh38 chr17: 15,574,701-15,581,900 , GRCh37.p13 chr17: 15,478,015-15,485,214 FBXW10B
    nsv6984898copy number variation1nstd229human GRCh38 chr17: 15,611,499-15,613,956 , GRCh37.p13 chr17: 15,514,813-15,517,270 FBXW10B
    nsv6638035copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,087,934-15,484,630 , GRCh38.p12 chr17: 14,184,617-15,581,316 COX10, CDRT15, 25 more genes
    nsv6637965copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,083,055-15,484,859 , GRCh38.p12 chr17: 14,179,738-15,581,545 CDRT8, LOC105371545, 25 more genes
    nsv6637912copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,073,563-15,479,923 , GRCh38.p12 chr17: 14,170,246-15,576,609 TVP23C-CDRT4, LOC101928475, 25 more genes
    nsv6637838copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,082,945-15,484,858 , GRCh38.p12 chr17: 14,179,628-15,581,544 COX10, FBXW10B, 25 more genes
    nsv6637794copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,078,283-15,479,940 , GRCh38.p12 chr17: 14,174,966-15,576,626 LOC105371545, TVP23C, 25 more genes
    nsv6637650copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,083,055-15,483,608 , GRCh38.p12 chr17: 14,179,738-15,580,294 MGC12916, RPL9P2, 25 more genes
    nsv6637617copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,087,934-15,491,532 , GRCh38.p12 chr17: 14,184,617-15,588,218 MGC12916, RPL9P2, 25 more genes
    nsv6637613copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,087,788-15,484,858 , GRCh38.p12 chr17: 14,184,471-15,581,544 TVP23C-CDRT4, LOC105371547, 25 more genes
    nsv6637590copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,087,934-15,479,940 , GRCh38.p12 chr17: 14,184,617-15,576,626 LOC105371545, RN7SL792P, 25 more genes
    nsv6637494copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,087,934-15,483,608 , GRCh38.p12 chr17: 14,184,617-15,580,294 RPS18P12, RPL23AP76, 25 more genes
    nsv6637466copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,077,819-15,491,532 , GRCh38.p12 chr17: 14,174,502-15,588,218 RPL23AP76, RPS18P12, 25 more genes
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