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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7049328inversion1nstd229human GRCh38 chr2: 62,200,122-62,200,177 , GRCh37.p13 chr2: 62,427,257-62,427,312 B3GNT2
    nsv7044192inversion1nstd229human GRCh38 chr2: 57,467,952-62,408,360 , GRCh37.p13 chr2: 57,695,087-62,635,495 RNA5SP94, PUS10, 62 more genes
    nsv6671200copy number variation1nstd229human GRCh38 chr2: 61,917,934-63,365,574 , GRCh37.p13 chr2: 62,145,069-63,592,709 OTX1, RN7SL51P, 22 more genes
    nsv6670928copy number variation1nstd229human GRCh38 chr2: 62,074,521-62,379,926 , GRCh37.p13 chr2: 62,301,656-62,607,061 RPSAP26, MIR5192, 5 more genes
    nsv6669527copy number variation1nstd229human GRCh38 chr2: 62,215,410-62,254,425 , GRCh37.p13 chr2: 62,442,545-62,481,560 B3GNT2
    nsv6669283copy number variation1nstd229human GRCh38 chr2: 62,190,535-62,209,624 , GRCh37.p13 chr2: 62,417,670-62,436,759 B3GNT2, MIR5192
    nsv6669066copy number variation1nstd229human GRCh38 chr2: 62,202,826-62,221,672 , GRCh37.p13 chr2: 62,429,961-62,448,807 MIR5192, B3GNT2
    nsv6664769copy number variation1nstd229human GRCh38 chr2: 62,193,443-62,196,137 , GRCh37.p13 chr2: 62,420,578-62,423,272 B3GNT2
    nsv6664108copy number variation1nstd229human GRCh38 chr2: 62,096,501-62,370,300 , GRCh37.p13 chr2: 62,323,636-62,597,435 PIGPP1, LOC105374761, 5 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
    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
    nsv6290610copy number variation1nstd102humanUncertain significance GRCh37 chr2: 62,396,258-62,741,154 , GRCh38.p12 chr2: 62,169,123-62,514,019 B3GNT2, TMEM17, 7 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5693659mobile element insertion2nstd211human GRCh38 chr2: 62,210,434-62,210,434 , GRCh37.p13 chr2: 62,437,569-62,437,569 B3GNT2
    nsv5692606mobile element insertion2nstd211human GRCh38 chr2: 62,224,349-62,224,349 , GRCh37.p13 chr2: 62,451,484-62,451,484 B3GNT2
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5400215mobile element insertion1nstd206human GRCh38 chr2: 62,224,349-62,224,400 , GRCh37.p13 chr2: 62,451,484-62,451,535 B3GNT2
    nsv5071034mobile element insertion1nstd203human GRCh38 chr2: 62,210,420-62,210,434 , GRCh37.p13 chr2: 62,437,555-62,437,569 B3GNT2
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