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Items: 1 to 20 of 239

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6112720copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,345,376-17,345,453 , GRCh38.p12 chr1: 17,018,881-17,018,958 SDHB
    nsv5886825copy number variation1nstd209human GRCh38 chr1: 17,039,195-17,039,246 , GRCh37.p13 chr1: 17,365,690-17,365,741 SDHB
    nsv5883506copy number variation1nstd209human GRCh38 chr1: 17,034,506-17,036,841 , GRCh37.p13 chr1: 17,361,001-17,363,336 SDHB
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5870258copy number variation1nstd209human GRCh38 chr1: 17,036,673-17,036,736 , GRCh37.p13 chr1: 17,363,168-17,363,231 SDHB
    nsv5828535copy number variation1nstd209human GRCh38 chr1: 17,034,530-17,036,065 , GRCh37.p13 chr1: 17,361,025-17,362,560 SDHB
    nsv5673240copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,345,376-17,371,403 , GRCh38.p12 chr1: 17,018,881-17,044,908 SDHB
    nsv5673154copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 17,349,097-17,359,646 , GRCh38.p12 chr1: 17,022,602-17,033,151 SDHB
    nsv5432386copy number variation1nstd206human GRCh38 chr1: 17,028,428-17,029,568 , GRCh37.p13 chr1: 17,354,923-17,356,063 SDHB
    nsv5429141copy number variation1nstd206human GRCh38 chr1: 17,023,220-17,023,288 , GRCh37.p13 chr1: 17,349,715-17,349,783 SDHB
    nsv5422746copy number variation1nstd206human GRCh38 chr1: 17,034,509-17,036,842 , GRCh37.p13 chr1: 17,361,004-17,363,337 SDHB
    nsv5381210copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,345,376-17,355,241 , GRCh38.p12 chr1: 17,018,881-17,028,746 SDHB
    nsv5348217translocation1nstd200human GRCh38 chr1: 17,034,509-17,034,509 , GRCh38 chr1: 17,036,842-17,036,842 , GRCh37.p13 chr1: 17,363,337-17,363,337 , GRCh37.p13 chr1: 17,361,004-17,361,004 SDHB
    nsv5343130translocation1nstd200human GRCh37 chr1: 17,361,004-17,361,004 , GRCh37 chr1: 17,363,337-17,363,337 , GRCh38.p12 chr1: 17,034,509-17,034,509 , GRCh38.p12 chr1: 17,036,842-17,036,842 SDHB
    nsv5297042copy number variation1nstd204human GRCh38.p13 chr1: 17,034,500-17,036,851 , GRCh37.p13 chr1: 17,360,995-17,363,346 SDHB
    nsv5283016copy number variation1nstd204human GRCh38.p13 chr1: 17,027,779-17,038,311 , GRCh37.p13 chr1: 17,354,274-17,364,806 SDHB
    nsv5220031copy number variation1nstd204human GRCh38.p13 chr1: 17,017,409-17,086,725 , GRCh37.p13 chr1: 17,343,904-17,413,220 SDHB, PADI2
    nsv5210784copy number variation1nstd204human GRCh38.p13 chr1: 17,026,870-17,038,788 , GRCh37.p13 chr1: 17,353,365-17,365,283 SDHB
    nsv5210415copy number variation1nstd204human GRCh38.p13 chr1: 17,034,501-17,036,800 , GRCh37.p13 chr1: 17,360,996-17,363,295 SDHB
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