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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5437802copy number variation1nstd206human GRCh38 chr2: 61,470,181-61,470,262 , GRCh37.p13 chr2: 61,697,316-61,697,397 USP34-DT, USP34
    nsv5214829copy number variation1nstd204human GRCh38.p13 chr2: 61,448,301-61,476,000 , GRCh37.p13 chr2: 61,675,436-61,703,135 USP34, USP34-DT, 1 more genes
    nsv5212850copy number variation1nstd204human GRCh38.p13 chr2: 61,414,101-61,980,100 , GRCh37.p13 chr2: 61,641,236-62,207,235 USP34-DT, LOC647077, 14 more genes
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4674748copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,523,951-62,262,243 , GRCh38.p12 chr2: 61,296,816-62,035,108 USP34, CCT4, 14 more genes
    nsv4454322copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,511,303-61,743,842 , GRCh38.p12 chr2: 61,284,168-61,516,707 USP34-DT, XPO1, 2 more genes
    nsv4382259copy number variation1nstd173human GRCh37 chr2: 61,656,835-61,699,984 , GRCh38.p12 chr2: 61,429,700-61,472,849 USP34-DT, USP34
    nsv4347155copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 57,445,335-62,733,206 , GRCh38.p12 chr2: 57,218,200-62,506,071 ATP1B3P1, PEX13, 66 more genes
    nsv4068897copy number variation1nstd166human GRCh37.p13 chr2: 61,697,316-61,697,397 , GRCh38.p12 chr2: 61,470,181-61,470,262 USP34, USP34-DT
    nsv4063857copy number variation1nstd166human GRCh37.p13 chr2: 61,652,104-61,724,496 , GRCh38.p12 chr2: 61,424,969-61,497,361 USP34, USP34-DT, 1 more genes
    nsv3956781copy number variation1nstd168human GRCh38 chr2: 61,449,490-61,506,911 , GRCh37.p13 chr2: 61,676,625-61,734,046 USP34, XPO1, 1 more genes
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3908436copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 60,439,952-61,785,075 , GRCh37 chr2: 60,586,448-61,931,571 , GRCh38 chr2: 60,359,313-61,704,436 ATP1B3P1, PEX13, 32 more genes
    nsv3908213copy number variation1nstd102humanUncertain significance NCBI36 chr2: 60,089,745-62,087,348 , GRCh37 chr2: 60,236,241-62,233,844 , GRCh38 chr2: 60,009,106-62,006,709 RPL21P33, LOC105374760, 41 more genes
    nsv3904784copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,953,678-64,270,970 , GRCh37 chr2: 59,100,174-64,417,466 , GRCh38 chr2: 58,873,039-64,190,332 UGP2, C2orf74-AS1, 79 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3903489copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 61,369,298-61,576,198 , GRCh37 chr2: 61,515,794-61,722,694 , GRCh38 chr2: 61,288,659-61,495,559 XPO1, USP34, 2 more genes
    nsv3903187copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,112,555-63,692,448 , GRCh38 chr2: 58,031,916-63,611,810 , GRCh37 chr2: 58,259,051-63,838,944 RPL31P30, RNU1-32P, 76 more genes
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