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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5937248copy number variation1nstd209human GRCh38 chr19: 38,714,152-38,714,538 , GRCh37.p13 chr19: 39,204,792-39,205,178 ACTN4, LOC107985291
    nsv5365851translocation1nstd200human GRCh38 chr19: 38,710,710-38,710,710 , GRCh38 chr19: 38,712,909-38,712,909 , GRCh37.p13 chr19: 39,201,350-39,201,350 , GRCh37.p13 chr19: 39,203,549-39,203,549 ACTN4, LOC107985291
    nsv5359776translocation1nstd200human GRCh38 chr19: 38,712,697-38,712,697 , GRCh38 chr19: 38,710,696-38,710,696 , GRCh37.p13 chr19: 39,201,336-39,201,336 , GRCh37.p13 chr19: 39,203,337-39,203,337 LOC107985291, ACTN4
    nsv4676223copy number variation1nstd102humanUncertain significance GRCh37 chr19: 38,512,717-39,291,526 , GRCh38.p12 chr19: 38,022,077-38,800,886 MAP4K1-AS1, LGALS7B, 25 more genes
    nsv4672833copy number variation1nstd186human GRCh37 chr19: 39,218,001-39,222,000 , GRCh38.p12 chr19: 38,727,361-38,731,360 , GRCh38.p12 chr19|NW_014040929.1: 136,997-140,996 ACTN4, CAPN12, 1 more genes
    nsv4633889copy number variation1nstd183human GRCh37 chr19: 39,218,760-39,219,025 , GRCh38.p12 chr19: 38,728,120-38,728,385 , GRCh38.p12 chr19|NW_014040929.1: 137,756-138,021 ACTN4, CAPN12, 1 more genes
    nsv4624194copy number variation1nstd183human GRCh37 chr19: 39,218,001-39,222,000 , GRCh38.p12 chr19: 38,727,361-38,731,360 , GRCh38.p12 chr19|NW_014040929.1: 136,997-140,996 CAPN12, ACTN4, 1 more genes
    nsv4536974copy number variation1nstd166human GRCh37.p13 chr19: 39,210,753-39,210,805 , GRCh38.p12 chr19: 38,720,113-38,720,165 , GRCh38.p12 chr19|NW_014040929.1: 129,749-129,801 ACTN4, LOC107985291
    nsv4457372copy number variation1nstd102humanPathogenic GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575 ZNF461, LOC101927572, 735 more genes
    nsv4264796copy number variation1nstd166human GRCh37.p13 chr19: 39,190,022-39,191,002 , GRCh38.p12 chr19: 38,699,382-38,700,362 , GRCh38.p12 chr19|NW_014040929.1: 109,018-109,998 ACTN4, LOC107985291
    nsv4263789copy number variation1nstd166human GRCh37.p13 chr19: 39,217,042-39,220,736 , GRCh38.p12 chr19: 38,726,402-38,730,096 , GRCh38.p12 chr19|NW_014040929.1: 136,038-139,732 CAPN12, LOC107985291, 1 more genes
    nsv4252467copy number variation1nstd166human GRCh37.p13 chr19: 39,217,858-39,217,938 , GRCh38.p12 chr19: 38,727,218-38,727,298 , GRCh38.p12 chr19|NW_014040929.1: 136,854-136,934 LOC107985291, ACTN4
    nsv3913730copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354 BCKDHA, ADGRE5, 1102 more genes
    nsv3912447copy number variation1nstd102humanPathogenic NCBI36 chr19: 42,502,119-47,934,680 , GRCh37 chr19: 37,810,279-43,242,840 , GRCh38 chr19: 37,319,377-42,738,688 MIR8077, TRI-TAT1-1, 233 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 ZNF321P, ZNF861P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 BABAM1, BEST2, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 LENG8, SYDE1, 2408 more genes
    nsv3895066copy number variation1nstd102humanPathogenic GRCh37 chr19: 37,582,250-41,630,908 , GRCh38.p12 chr19: 37,091,348-41,125,003 RNU6-140P, COQ8B, 162 more genes
    nsv3169031copy number variation1nstd158human GRCh38.p12 chr19: 38,412,977-41,901,266 , GRCh37 chr19: 38,903,617-42,405,416 , ACTN4, 162 more genes
    nsv3168446copy number variation1nstd158human GRCh37 chr19: 35,445,908-45,506,757 , GRCh38.p12 chr19: 34,955,004-45,003,499 , ACTN4, 449 more genes
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