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Items: 1 to 20 of 149

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881768copy number variation1nstd209human GRCh38 chr1: 26,439,943-26,440,019 , GRCh37.p13 chr1: 26,766,434-26,766,510 DHDDS
    nsv5829666copy number variation1nstd209human GRCh38 chr1: 26,438,417-26,439,616 , GRCh37.p13 chr1: 26,764,908-26,766,107 DHDDS
    nsv5673254copy number variation1nstd102humanPathogenic GRCh37 chr1: 25,870,180-26,795,632 , GRCh38.p12 chr1: 25,543,689-26,469,141 LDLRAP1, AUNIP, 36 more genes
    nsv5579756copy number variation1nstd207human GRCh38 chr1: 26,439,943-26,440,019 , GRCh37.p13 chr1: 26,766,434-26,766,510 DHDDS
    nsv5431505copy number variation1nstd206human GRCh38 chr1: 26,460,535-26,460,731 , GRCh37.p13 chr1: 26,787,026-26,787,222 DHDDS
    nsv5429186copy number variation1nstd206human GRCh38 chr1: 26,434,920-26,435,269 , GRCh37.p13 chr1: 26,761,411-26,761,760 DHDDS
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv5420593copy number variation1nstd206human GRCh38 chr1: 26,441,313-26,441,440 , GRCh37.p13 chr1: 26,767,804-26,767,931 DHDDS
    nsv5420491copy number variation1nstd206human GRCh38 chr1: 26,439,945-26,440,020 , GRCh37.p13 chr1: 26,766,436-26,766,511 DHDDS
    nsv5284578copy number variation1nstd204human GRCh38.p13 chr1: 26,441,303-26,441,449 , GRCh37.p13 chr1: 26,767,794-26,767,940 DHDDS
    nsv4903231copy number variation1nstd200human GRCh38 chr1: 26,433,917-26,436,067 , GRCh37.p13 chr1: 26,760,408-26,762,558 DHDDS
    nsv4895486copy number variation1nstd200human GRCh38 chr1: 26,448,497-26,449,126 , GRCh37.p13 chr1: 26,774,988-26,775,617 DHDDS
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4638114copy number variation1nstd186human GRCh37 chr1: 26,766,436-26,766,511 , GRCh38.p12 chr1: 26,439,945-26,440,020 DHDDS
    nsv4516782copy number variation1nstd166human GRCh37.p13 chr1: 26,766,436-26,766,511 , GRCh38.p12 chr1: 26,439,945-26,440,020 DHDDS
    nsv4516494copy number variation1nstd166human GRCh37.p13 chr1: 26,756,686-26,757,618 , GRCh38.p12 chr1: 26,430,195-26,431,127 LIN28A, DHDDS
    nsv4461331mobile element insertion1nstd166human GRCh37.p13 chr1: 26,760,628-26,760,628 , GRCh38.p12 chr1: 26,434,137-26,434,137 DHDDS
    nsv4453629copy number variation1nstd102humanUncertain significance GRCh37 chr1: 26,603,699-26,903,828 , GRCh38.p12 chr1: 26,277,208-26,577,337 CEP85, RPL34P4, 13 more genes
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