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Items: 1 to 20 of 105

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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
    nsv5219648copy number variation1nstd204human GRCh38.p13 chr2: 70,777,761-70,779,360 , GRCh37.p13 chr2: 71,004,893-71,006,492 , GRCh37.p13 chr2|NW_004504299.1: 344,043-345,642 FIGLA
    nsv5215767copy number variation1nstd204human GRCh37.p13 chr2|NW_004504299.1: 146,283-444,281 , GRCh37.p13 chr2: 70,807,133-71,105,130 , GRCh38.p13 chr2: 70,580,001-70,878,000 ADD2, CD207, 5 more genes
    nsv5214203copy number variation1nstd204human GRCh38.p13 chr2: 70,783,961-70,798,357 , GRCh37.p13 chr2: 71,011,093-71,025,489 , GRCh37.p13 chr2|NW_004504299.1: 350,243-364,639 FIGLA
    nsv4586511copy number variation1nstd183human GRCh37 chr2: 71,004,514-71,004,617 , GRCh38.p12 chr2: 70,777,382-70,777,485 FIGLA
    nsv4467382mobile element insertion1nstd166human GRCh37.p13 chr2: 71,014,042-71,014,042 , GRCh38.p12 chr2: 70,786,910-70,786,910 FIGLA
    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
    nsv3904684copy number variation1nstd102humanUncertain significance NCBI36 chr2: 70,789,795-72,427,536 , GRCh38 chr2: 70,709,155-72,346,899 , GRCh37 chr2: 70,936,287-72,574,028 DYSF, RPS15AP13, 31 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
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3883931copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,671,346-85,698,002 , GRCh38.p12 chr2: 63,444,212-85,470,879 LINC01888, RNU7-64P, 367 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 IGKV2OR2-10, LOC105374848, 3737 more genes
    nsv3169185inversion1nstd158human GRCh37 chr2: 33,141,412-240,664,512 , GRCh38.p12 chr2: 32,916,345-239,742,818 , AAMP, 3290 more genes
    nsv3169060copy number variation1nstd158human GRCh38.p12 chr2: 32,916,139-76,194,347 , GRCh37 chr2: 33,141,206-76,421,473 , ACTG2, 703 more genes
    nsv3168991copy number variation1nstd158human GRCh38.p12 chr2: 32,915,866-113,847,236 , GRCh37 chr2: 33,140,933-114,604,813 , ACTG2, 1453 more genes
    nsv3168947copy number variation1nstd158human GRCh38.p12 chr2: 32,915,967-120,687,651 , GRCh37 chr2: 33,141,034-121,445,227 , ACTG2, 1524 more genes
    nsv3168432copy number variation1nstd158human GRCh37 chr2: 33,091,688-141,363,659 , GRCh38.p12 chr2: 32,866,621-140,606,090 , ACTG2, 1834 more genes
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