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Items: 13

  • The following terms were not found in dbVar: 1', bufuralol.
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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6310866copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,128,943-24,131,025 , GRCh38.p12 chr1: 23,802,453-23,804,535 HMGCL
    nsv6310955copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,140,670-24,140,838 , GRCh38.p12 chr1: 23,814,180-23,814,348 HMGCL
    nsv4682089copy number variation1nstd102humanPathogenic GRCh37 chr1: 120,311,344-120,311,487 , GRCh38.p12 chr1: 119,768,721-119,768,864 HMGCS2
    nsv6310584copy number variation1nstd102humanPathogenic GRCh37 chr1: 120,311,344-120,311,467 , GRCh38.p12 chr1: 119,768,721-119,768,844 HMGCS2
    nsv7095604copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,128,943-24,129,064 , GRCh38.p12 chr1: 23,802,453-23,802,574 HMGCL
    nsv4454474copy number variation1nstd102humanPathogenic GRCh37 chr1: 120,311,364-120,311,467 , GRCh38 chr1: 119,768,741-119,768,844 HMGCS2
    nsv6310867copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 24,137,216-24,140,838 , GRCh38.p12 chr1: 23,810,726-23,814,348 HMGCL
    nsv6311007copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,137,216-24,151,915 , GRCh38.p12 chr1: 23,810,726-23,825,425 HMGCL, LOC105376861
    nsv7095605copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,146,990-24,151,915 , GRCh38.p12 chr1: 23,820,500-23,825,425 LOC105376861, HMGCL
    nsv4683846copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,151,826-24,151,925 , GRCh38.p12 chr1: 23,825,336-23,825,435 LOC105376861, HMGCL
    nsv7095300copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 24,144,074-24,151,845 , GRCh38.p12 chr1: 23,817,584-23,825,355 HMGCL, LOC105376861
    nsv5673325copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,140,670-24,194,786 , GRCh38.p12 chr1: 23,814,180-23,868,296 HMGCL, FUCA1, 1 more genes
    nsv7095949copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,199,339-24,690,861 , GRCh38.p12 chr1: 18,872,845-24,364,371 RPL29P6, NBPF3, 156 more genes
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