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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6309699copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr14: 67,243,162-67,490,412 , GRCh38.p12 chr14: 66,776,444-67,023,695 GPHN
    nsv7098265copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chrX: 31,496,203-31,697,723 , GRCh38.p12 chrX: 31,478,086-31,679,606 DMD
    nsv3887387copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chrX: 32,715,967-32,867,957 , GRCh38 chrX: 32,697,850-32,849,840 DMD
    nsv4682076copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 65,707,465-65,767,630 , GRCh38.p12 chr6: 64,997,572-65,057,737 EYS
    nsv6312056copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 65,098,573-65,149,255 , GRCh38.p12 chr6: 64,388,680-64,439,362 EYS
    nsv3871867copy number variation3nstd102humanPathogenic, Likely pathogenic GRCh38 chr1: 39,428,731-39,468,327 , GRCh37 chr1: 39,894,403-39,933,999 MACF1
    nsv4456715copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 135,710,693-135,735,779 , GRCh38.p12 chr6: 135,389,555-135,414,641 AHI1
    nsv4683841copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr17: 41,242,941-41,267,816 , GRCh38.p12 chr17: 43,090,924-43,115,799 BRCA1
    nsv5673550copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr2: 73,777,384-73,800,561 , GRCh38.p12 chr2: 73,550,257-73,573,434 ALMS1
    nsv6312148copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 161,969,866-161,990,468 , GRCh38.p12 chr6: 161,548,834-161,569,436 PRKN
    nsv4451042copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr17: 41,251,772-41,267,816 , GRCh38 chr17: 43,099,755-43,115,799 BRCA1
    nsv4683573copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr6: 129,674,299-129,687,516 , GRCh38.p12 chr6: 129,353,154-129,366,371 LAMA2
    nsv4683665copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr2: 47,690,160-47,702,419 , GRCh38.p12 chr2: 47,463,021-47,475,280 MSH2
    nsv4681596copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr3: 121,491,404-121,500,721 , GRCh38.p12 chr3: 121,772,557-121,781,874 IQCB1
    nsv5673894copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr9: 6,587,131-6,595,129 , GRCh38.p12 chr9: 6,587,131-6,595,129 GLDC
    nsv6310552copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr19: 54,625,219-54,632,765 , GRCh38.p12 chr19|NW_003571060.1: 96,332-103,878 , GRCh38.p12 chr19|NW_003571061.2: 96,332-103,878 , GRCh38.p12 chr19|NW_003571059.2: 96,332-103,878 , GRCh38.p12 chr19|NW_003571057.2: 96,332-103,878 , GRCh38.p12 chr19|NW_003571056.2: 96,332-103,878 , GRCh38.p12 chr19|NW_003571055.2: 96,332-103,878 , GRCh38.p12 chr19: 54,121,840-54,129,390 , GRCh38.p12 chr19|NT_187693.1: 96,332-103,878 , GRCh38.p12 chr19|NW_003571058.2: 96,332-103,878 , GRCh38.p12 chr19|NW_003571054.1: 96,332-103,878 PRPF31
    nsv3876176copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr19: 11,211,022-11,218,067 , GRCh38.p12 chr19: 11,100,346-11,107,391 LDLR
    nsv3882082copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh38 chr13: 32,370,558-32,376,669 , GRCh37 chr13: 32,944,695-32,950,806 BRCA2
    nsv4716479copy number variation3nstd102humanPathogenic, Likely pathogenic GRCh37 chr16: 14,017,229-14,022,884 , GRCh38 chr16: 13,923,372-13,929,027 ERCC4
    nsv3878595copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh38 chr12: 102,917,538-102,921,296 , GRCh37 chr12: 103,311,316-103,315,074 PAH
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