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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137693copy number variation1nstd102humannot provided GRCh38 chr2: 46,722,010-46,985,532 , GRCh37.p13 chr2: 46,949,149-47,212,671 TTC7A, LINC01119, 4 more genes
    nsv5870176copy number variation1nstd209human GRCh38 chr2: 46,955,124-46,955,243 , GRCh37.p13 chr2: 47,182,263-47,182,382 TTC7A
    nsv5689753mobile element insertion1nstd211human GRCh38 chr2: 46,916,634-46,916,634 , GRCh37.p13 chr2: 47,143,773-47,143,773 TTC7A, MCFD2
    nsv5673541copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,168,661-47,238,594 , GRCh38.p12 chr2: 46,941,522-47,011,455 TTC7A, MCFD2
    nsv5673220copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,177,482-47,301,062 , GRCh38.p12 chr2: 46,950,343-47,073,923 TTC7A
    nsv5564431copy number variation1nstd102humanUncertain significance GRCh37 chr2: 47,256,343-47,301,082 , GRCh38.p12 chr2: 47,029,204-47,073,943 TTC7A
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5450313copy number variation1nstd206human GRCh38 chr2: 46,955,125-46,955,244 , GRCh37.p13 chr2: 47,182,264-47,182,383 TTC7A
    nsv5446967copy number variation1nstd206human GRCh38 chr2: 46,911,343-46,916,850 , GRCh37.p13 chr2: 47,138,482-47,143,989 TTC7A, MCFD2
    nsv5442025copy number variation1nstd206human GRCh38 chr2: 46,925,512-46,931,757 , GRCh37.p13 chr2: 47,152,651-47,158,896 MCFD2, TTC7A
    nsv5439171copy number variation1nstd206human GRCh38 chr2: 46,970,724-48,057,041 , GRCh37.p13 chr2: 47,197,863-48,284,180 , LOC105374589, 24 more genes
    nsv5435264copy number variation1nstd206human GRCh38 chr2: 47,053,196-47,055,976 , GRCh37.p13 chr2: 47,280,335-47,283,115 TTC7A
    nsv5434517copy number variation1nstd206human GRCh38 chr2: 46,922,096-46,924,057 , GRCh37.p13 chr2: 47,149,235-47,151,196 MCFD2, TTC7A
    nsv5365859translocation1nstd200human GRCh38 chr2: 47,053,196-47,053,196 , GRCh38 chr2: 47,055,976-47,055,976 , GRCh37.p13 chr2: 47,280,335-47,280,335 , GRCh37.p13 chr2: 47,283,115-47,283,115 TTC7A
    nsv5365858translocation1nstd200human GRCh38 chr2: 47,001,268-47,001,268 , GRCh38 chr4: 140,100,594-140,100,594 , GRCh37.p13 chr2: 47,228,407-47,228,407 , GRCh37.p13 chr4: 141,021,748-141,021,748 MAML3, TTC7A
    nsv5365857translocation1nstd200human GRCh38 chr4: 140,100,593-140,100,593 , GRCh38 chr2: 47,000,274-47,000,274 , GRCh37.p13 chr2: 47,227,413-47,227,413 , GRCh37.p13 chr4: 141,021,747-141,021,747 TTC7A, MAML3
    nsv5359872translocation1nstd200human GRCh38 chr2: 46,924,057-46,924,057 , GRCh38 chr2: 46,922,096-46,922,096 , GRCh37.p13 chr2: 47,149,235-47,149,235 , GRCh37.p13 chr2: 47,151,196-47,151,196 MCFD2, TTC7A
    nsv5294169copy number variation1nstd204human GRCh38.p13 chr2: 47,053,191-47,055,985 , GRCh37.p13 chr2: 47,280,330-47,283,124 TTC7A
    nsv5287046copy number variation1nstd204human GRCh37.p13 chr2: 47,158,721-47,164,848 , GRCh38.p13 chr2: 46,931,582-46,937,709 TTC7A, MCFD2
    nsv5281839copy number variation1nstd204human GRCh37.p13 chr2: 47,152,628-47,158,917 , GRCh38.p13 chr2: 46,925,489-46,931,778 MCFD2, TTC7A
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