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Items: 15

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    Number of Variants: 15

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096808copy number variation1nstd102humanPathogenic GRCh37 chr3: 48,916,771-48,921,577 , GRCh38.p12 chr3: 48,879,338-48,884,144 SLC25A20
    nsv7096469copy number variation1nstd102humanPathogenic GRCh37 chr3: 48,929,393-48,929,525 , GRCh38.p12 chr3: 48,891,960-48,892,092 SLC25A20
    nsv4684208copy number variation1nstd102humanPathogenic GRCh38 chr3: 48,883,996-48,884,123 , GRCh37 chr3: 48,921,429-48,921,556 SLC25A20
    nsv7096809copy number variation1nstd102humanUncertain significance GRCh37 chr3: 48,936,103-48,936,227 , GRCh38.p12 chr3: 48,898,670-48,898,794 SLC25A20
    nsv6315166copy number variation1nstd102humanPathogenic GRCh37 chr3: 44,948,482-49,115,809 , GRCh38.p12 chr3: 44,906,990-49,078,376 SLC25A20, TMEM89, 129 more genes
    nsv4728146copy number variation1nstd102humanPathogenic GRCh37 chr3: 48,807,193-51,363,558 , GRCh38.p12 chr3: 48,769,760-51,326,127 SLC25A20, APEH, 90 more genes
    nsv5673729copy number variation1nstd102humanPathogenic GRCh37 chr3: 48,507,870-50,340,407 , GRCh38.p12 chr3: 48,466,471-50,302,976 SLC25A20, SEMA3B-AS1, 87 more genes
    nsv4674083copy number variation1nstd102humanPathogenic GRCh37 chr3: 48,346,677-49,630,228 , GRCh38.p12 chr3: 48,305,187-49,592,795 SLC25A20, MIR6823, 59 more genes
    nsv3885606copy number variation1nstd102humanPathogenic GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156 SLC25A20, RNU4-62P, 2880 more genes
    nsv3889228copy number variation2nstd102humanPathogenic GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115 SLC25A20, NDUFB4, 2876 more genes
    nsv3880617copy number variation1nstd102humanPathogenic GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391 SLC25A20, RPL23AP49, 2875 more genes
    nsv4347762copy number variation1nstd102humanPathogenic GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589 SLC25A20, UQCRC1, 291 more genes
    nsv3921797copy number variation1nstd102humanPathogenic NCBI36 chr3: 45,896,379-50,762,357 , GRCh38 chr3: 45,879,883-50,749,922 , GRCh37 chr3: 45,921,375-50,787,353 SLC25A20, RBM5-AS1, 185 more genes
    nsv3883164copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 37,028,313-49,929,220 , GRCh38.p12 chr3: 36,986,822-49,891,787 SLC25A20, ACAA1, 344 more genes
    nsv7096805copy number variation1nstd102humanUncertain significance GRCh37 chr3: 45,435,946-49,137,751 , GRCh38.p12 chr3: 45,394,454-49,100,318 SLC25A20, SNORA94, 120 more genes
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