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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5975543inversion1nstd209human GRCh38 chr2: 79,026,827-79,158,710 , GRCh37.p13 chr2: 79,253,953-79,385,836 REG3A, REG1A, 3 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5438847copy number variation1nstd206human GRCh38 chr2: 79,114,398-79,119,088 , GRCh37.p13 chr2: 79,341,524-79,346,214 REG1A
    nsv4728735copy number variation1nstd102humanUncertain significance GRCh37 chr2: 77,977,261-79,488,901 , GRCh38.p12 chr2: 77,750,135-79,261,775 REG1CP, LOC105374821, 18 more genes
    nsv4728718copy number variation1nstd102humanUncertain significance GRCh37 chr2: 76,035,305-81,220,405 , GRCh38.p12 chr2: 75,808,179-80,993,281 LOC107985904, LRRTM4-AS1, 42 more genes
    nsv4519874copy number variation1nstd166human GRCh37.p13 chr2: 78,626,999-79,994,000 , GRCh38.p12 chr2: 78,399,873-79,766,874 , CTNNA2, 18 more genes
    nsv4451769copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,972,080-83,043,893 , GRCh38.p12 chr2: 74,744,953-82,816,769 LOC105374824, LOC105374827, 77 more genes
    nsv4451607copy number variation1nstd102humanPathogenic GRCh37 chr2: 77,907,114-87,330,965 , GRCh38.p12 chr2: 77,679,988-87,103,842 REEP1, RBX1P1, 134 more genes
    nsv4451220copy number variation1nstd102humanUncertain significance GRCh37 chr2: 78,114,851-82,104,559 , GRCh38.p12 chr2: 77,887,725-81,877,435 LOC105374824, LINC01815, 37 more genes
    nsv4450510copy number variation1nstd102humanUncertain significance GRCh37 chr2: 76,157,543-82,375,906 , GRCh38.p12 chr2: 75,930,417-82,148,782 LOC105374815, LINC01815, 50 more genes
    nsv4370388copy number variation1nstd173human GRCh37 chr2: 78,384,035-80,045,079 , GRCh38.p12 chr2: 78,156,909-79,817,953 , LOC100421651, 19 more genes
    nsv4054988copy number variation1nstd166human GRCh37.p13 chr2: 79,341,524-79,346,214 , GRCh38.p12 chr2: 79,114,398-79,119,088 REG1A
    nsv3962286insertion1nstd168human GRCh38 chr2: 79,081,480-79,121,313 , GRCh37.p13 chr2: 79,308,606-79,348,439 REG1B, REG1A
    nsv3957015copy number variation1nstd168human GRCh38 chr2: 79,081,480-79,138,487 , GRCh37.p13 chr2: 79,308,606-79,365,613 REG1A, REG1B, 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
    nsv3907588copy number variation1nstd102humanUncertain significance GRCh37 chr2: 79,347,092-80,360,500 , GRCh38 chr2: 79,119,966-80,133,374 , NCBI36 chr2: 79,200,600-80,214,011 CTNNA2, GNA13P1, 8 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
    nsv3900298copy number variation1nstd102humanPathogenic GRCh37 chr2: 58,506,654-83,814,086 , GRCh38 chr2: 58,279,519-83,586,962 , NCBI36 chr2: 58,360,158-83,667,597 MIR1285-2, SERTAD2, 404 more genes
    nsv3897079copy number variation1nstd102humanPathogenic GRCh38 chr2: 77,025,216-90,282,666 , NCBI36 chr2: 77,105,850-90,982,989 , GRCh37 chr2: 77,252,342-91,619,262 IGKV2D-18, RPIA, 280 more genes
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