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Items: 1 to 20 of 165

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5961219copy number variation1nstd209human GRCh38 chr22: 30,454,865-30,454,930 , GRCh37.p13 chr22: 30,850,852-30,850,917 SEC14L3
    nsv5665719insertion1nstd207human GRCh38 chr22: 30,454,536-30,454,536 , GRCh37.p13 chr22: 30,850,523-30,850,523 SEC14L3
    nsv5597501copy number variation1nstd207human GRCh38 chr22: 30,454,865-30,454,930 , GRCh37.p13 chr22: 30,850,852-30,850,917 SEC14L3
    nsv5281777copy number variation1nstd204human GRCh38.p13 chr22: 30,454,601-30,455,000 , GRCh37.p13 chr22: 30,850,588-30,850,987 SEC14L3
    nsv5038542copy number variation1nstd200human GRCh38 chr22: 30,471,041-30,497,065 , GRCh37.p13 chr22: 30,867,028-30,893,052 SDC4P, SEC14L3, 2 more genes
    nsv5036168copy number variation1nstd200human GRCh38 chr22: 30,378,114-30,449,390 , GRCh37.p13 chr22: 30,774,103-30,845,377 , SEC14L3, 9 more genes
    nsv5034982copy number variation1nstd200human GRCh38 chr22: 30,454,705-30,459,147 , GRCh37.p13 chr22: 30,850,692-30,855,134 SEC14L3
    nsv5032224copy number variation1nstd200human GRCh38 chr22: 30,471,374-30,473,440 , GRCh37.p13 chr22: 30,867,361-30,869,427 SEC14L3
    nsv4884718copy number variation1nstd200human GRCh37 chr22: 30,774,103-30,845,377 , GRCh38.p12 chr22: 30,378,114-30,449,390 , LOC105372991, 9 more genes
    nsv4871537copy number variation1nstd200human GRCh37 chr22: 30,850,692-30,855,135 , GRCh38.p12 chr22: 30,454,705-30,459,148 SEC14L3
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4622555copy number variation1nstd183human GRCh37 chr22: 30,853,926-30,861,006 , GRCh38.p12 chr22: 30,457,939-30,465,019 SEC14L3
    nsv4567237insertion1nstd166human GRCh37.p13 chr22: 30,850,714-30,850,714 , GRCh38.p12 chr22: 30,454,727-30,454,727 SEC14L3
    nsv4534594copy number variation1nstd166human GRCh37.p13 chr22: 30,850,714-30,850,774 , GRCh38.p12 chr22: 30,454,727-30,454,787 SEC14L3
    nsv4533502copy number variation1nstd166human GRCh37.p13 chr22: 30,858,482-30,860,542 , GRCh38.p12 chr22: 30,462,495-30,464,555 SEC14L3
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4436827inversion1nstd102humanLikely pathogenic GRCh38.p12 chr22: 29,288,727-31,344,669 , GRCh37 chr22: 29,684,716-31,740,655 AP1B1, EWSR1, 81 more genes
    nsv4388401copy number variation3nstd173human GRCh37 chr22: 30,868,102-30,893,738 , GRCh38.p12 chr22: 30,472,115-30,497,751 SEC14L4, LOC107985579, 2 more genes
    nsv4383389copy number variation1nstd173human GRCh37 chr22: 21,465,662-33,984,045 , GRCh38.p12 chr22: 21,111,373-33,588,059 , XBP1, 450 more genes
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