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Items: 1 to 20 of 108

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885421copy number variation1nstd209human GRCh38 chr2: 63,140,909-63,234,733 , GRCh37.p13 chr2: 63,368,044-63,461,868 WDPCP, MTFR2P1, 1 more genes
    nsv5690791mobile element insertion1nstd211human GRCh38 chr2: 63,233,092-63,233,092 , GRCh37.p13 chr2: 63,460,227-63,460,227 WDPCP, MTFR2P1
    nsv5564338copy number variation1nstd102humanUncertain significance GRCh37 chr2: 62,991,401-64,335,444 , GRCh38.p12 chr2: 62,764,266-64,108,310 RPL27P5, RPS4XP5, 17 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
    nsv5395488mobile element insertion1nstd206human GRCh38 chr2: 63,233,092-63,233,115 , GRCh37.p13 chr2: 63,460,227-63,460,250 MTFR2P1, WDPCP
    nsv4908750copy number variation1nstd200human GRCh38 chr2: 63,228,630-63,230,816 , GRCh37.p13 chr2: 63,455,765-63,457,951 MTFR2P1, WDPCP
    nsv4901552copy number variation1nstd200human GRCh38 chr2: 63,229,178-63,230,665 , GRCh37.p13 chr2: 63,456,313-63,457,800 WDPCP, MTFR2P1
    nsv4772342copy number variation1nstd200human GRCh37 chr2: 63,456,181-63,457,972 , GRCh38.p12 chr2: 63,229,046-63,230,837 WDPCP, MTFR2P1
    nsv4770437copy number variation1nstd200human GRCh37 chr2: 63,456,313-63,457,800 , GRCh38.p12 chr2: 63,229,178-63,230,665 MTFR2P1, WDPCP
    nsv4584060copy number variation1nstd183human GRCh37 chr2: 63,230,734-63,562,496 , GRCh38.p12 chr2: 63,003,599-63,335,361 OTX1, EHBP1, 7 more genes
    nsv4467332mobile element insertion1nstd166human GRCh37.p13 chr2: 63,461,367-63,461,367 , GRCh38.p12 chr2: 63,234,232-63,234,232 WDPCP, MTFR2P1
    nsv4067253copy number variation1nstd166human GRCh37.p13 chr2: 63,428,076-63,509,050 , GRCh38.p12 chr2: 63,200,941-63,281,915 MTFR2P1, LOC107985769, 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
    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
    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
    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
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3885478copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 61,701,437-65,731,084 , GRCh38.p12 chr2: 61,474,302-65,503,950 MDH1, OTX1, 80 more genes
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