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Items: 1 to 20 of 112

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7047431inversion1nstd229human GRCh38 chr2: 78,843,494-79,214,096 , GRCh37.p13 chr2: 79,070,620-79,441,222 REG1B, RNU6-812P, 6 more genes
    nsv7043678inversion1nstd229human GRCh38 chr2: 78,909,860-79,766,861 , GRCh37.p13 chr2: 79,136,986-79,993,987 REG1CP, CTNNA2-AS1, 10 more genes
    nsv7039989inversion1nstd229human GRCh38 chr2: 74,303,206-79,264,856 , GRCh37.p13 chr2: 74,530,333-79,491,982 WBP1, DCTN1-AS1, 80 more genes
    nsv6688958copy number variation1nstd229human GRCh38 chr2: 78,953,066-81,234,791 , GRCh37.p13 chr2: 79,180,192-81,461,915 GNA13P1, LOC105374823, 17 more genes
    nsv6686974copy number variation1nstd229human GRCh38 chr2: 78,195,929-79,340,476 , GRCh37.p13 chr2: 78,423,055-79,567,602 REG1CP, LOC100421651, 13 more genes
    nsv6686066copy number variation1nstd229human GRCh38 chr2: 78,308,222-79,522,493 , GRCh37.p13 chr2: 78,535,348-79,749,619 CTNNA2, CYCSP6, 14 more genes
    nsv6680926copy number variation1nstd229human GRCh38 chr2: 78,154,785-79,817,747 , GRCh37.p13 chr2: 78,381,911-80,044,873 REG1B, LOC105374820, 18 more genes
    nsv6680879copy number variation1nstd229human GRCh38 chr2: 78,362,714-79,751,963 , GRCh37.p13 chr2: 78,589,840-79,979,089 CTNNA2-AS1, LOC105374820, 17 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628408copy number variation1nstd224human GRCh37 chr2: 78,680,056-79,827,274 , GRCh38.p12 chr2: 78,452,930-79,600,148 CTNNA2, REG1CP, 13 more genes
    nsv6345959copy number variation1nstd223human GRCh38 chr2: 79,086,765-79,087,102 , GRCh37.p13 chr2: 79,313,891-79,314,228 REG1B
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    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
    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
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