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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096357copy number variation1nstd102humanPathogenic GRCh37 chr22: 41,895,710-41,895,886 , GRCh38.p12 chr22: 41,499,706-41,499,882 ACO2
    nsv6311138copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,895,710-41,904,073 , GRCh38.p12 chr22: 41,499,706-41,508,069 ACO2
    nsv7096182copy number variation1nstd102humanPathogenic GRCh37 chr22: 41,918,814-41,924,617 , GRCh38.p12 chr22: 41,522,810-41,528,613 ACO2, POLR3H
    nsv7093215copy number variation1nstd102humanPathogenic GRCh37 chr22: 41,923,359-41,923,420 , GRCh38 chr22: 41,527,355-41,527,416 ACO2, POLR3H
    nsv7095947copy number variation1nstd102humanPathogenic GRCh37 chr22: 41,865,151-41,865,206 , GRCh38.p12 chr22: 41,469,147-41,469,202 ACO2, PHF5A
    nsv7148283copy number variation1nstd102humanLikely pathogenic GRCh38 chr22: 41,527,570-41,532,843 , GRCh37.p13 chr22: 41,923,574-41,928,847 ACO2, POLR3H
    nsv6634300copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 41,922,320-41,922,321 , GRCh38 chr22: 41,526,316-41,526,317 ACO2, POLR3H
    nsv7096181copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,907,860-41,924,617 , GRCh38.p12 chr22: 41,511,856-41,528,613 ACO2, POLR3H
    nsv7096313copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,918,814-41,923,444 , GRCh38.p12 chr22: 41,522,810-41,527,440 ACO2, POLR3H
    nsv5381158copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,918,834-41,923,424 , GRCh38.p12 chr22: 41,522,830-41,527,420 ACO2, POLR3H
    nsv6311196copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,865,151-41,924,617 , GRCh38.p12 chr22: 41,469,147-41,528,613 ACO2, POLR3H, 1 more genes
    nsv3902776copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,667-51,243,435 , GRCh38.p12 chr22: 16,367,190-50,805,007 ACO2, LOC100419811, 1084 more genes
    nsv3894026copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,691-51,237,518 , GRCh38.p12 chr22: 16,367,190-50,799,090 ACO2, IGKV3OR22-2, 1084 more genes
    nsv3890411copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,691-51,237,463 , GRCh38.p12 chr22: 16,367,190-50,799,035 ACO2, RNU6-495P, 1084 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 ACO2, FBXO7, 1084 more genes
    nsv3902598copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,691-51,220,902 , GRCh38.p12 chr22: 16,367,190-50,782,474 ACO2, FABP5P11, 1084 more genes
    nsv3907231copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,114,244-51,211,392 , GRCh38.p12 chr22: 16,367,190-50,772,964 ACO2, DDTL, 1084 more genes
    nsv3890401copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,114,244-51,195,728 , GRCh38.p12 chr22: 16,367,190-50,757,300 ACO2, YPEL1, 1083 more genes
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 ACO2, IGLV3-27, 1082 more genes
    nsv3891895copy number variation2nstd102humanPathogenic GRCh37 chr22: 16,888,900-51,197,838 , GRCh38.p12 chr22: 16,408,174-50,759,410 ACO2, POM121L7P, 1082 more genes
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