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Items: 1 to 20 of 77

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4977999copy number variation1nstd200human GRCh38 chr11: 5,269,595-5,269,714 , GRCh37.p13 chr11: 5,290,825-5,290,944 HBE1
    nsv4841643copy number variation1nstd200human GRCh37 chr11: 5,290,825-5,290,944 , GRCh38.p12 chr11: 5,269,595-5,269,714 HBE1
    nsv4768373copy number variation1nstd102humanPathogenic GRCh37 chr11: 210,300-8,664,358 , GRCh38.p12 chr11: 210,300-8,642,811 LOC107984302, STK33, 375 more genes
    nsv4751865inversion1nstd199human GRCh37 chr11: 1,620,303-71,272,233 , GRCh38.p12 chr11: 1,599,073-71,561,187 , ACP2, 1686 more genes
    nsv4741272copy number variation1nstd199human GRCh37 chr11: 3,487,146-67,605,076 , GRCh38.p12 chr11: 3,465,916-67,837,605 , DRAP1, 1535 more genes
    nsv4675184copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,112,523-5,336,304 , GRCh38.p12 chr11: 5,091,293-5,315,074 OR52A4P, OR52J1P, 16 more genes
    nsv4674879copy number variation1nstd102humanPathogenic GRCh37 chr11: 235,934-33,826,995 , GRCh38.p12 chr11: 235,934-33,805,449 BGLT3, RPL21P97, 723 more genes
    nsv4387795copy number variation1nstd173human GRCh37 chr11: 5,067,391-6,257,231 , GRCh38.p12 chr11: 5,046,161-6,236,001 HBD, OR52N2, 85 more genes
    nsv4350476copy number variation1nstd102humanPathogenic GRCh37 chr11: 193,146-12,643,136 , GRCh38.p12 chr11: 193,146-12,621,589 KRTAP5-3, OR56A7P, 457 more genes
    nsv4345375sequence alteration1nstd166human GRCh37.p13 chr11: 5,037,622-5,455,788 , GRCh38.p12 chr11: 5,016,392-5,434,558 HBB, HBE1, 32 more genes
    nsv4199791copy number variation1nstd166human GRCh37.p13 chr11: 5,290,825-5,290,944 , GRCh38.p12 chr11: 5,269,595-5,269,714 HBE1
    nsv4192783copy number variation1nstd166human GRCh37.p13 chr11: 4,640,331-5,290,171 , GRCh38.p12 chr11: 4,619,101-5,268,941 HBE1, OR52E1, 50 more genes
    nsv3959092insertion1nstd168human GRCh38 chr11: 5,255,613-5,315,858 , GRCh37.p13 chr11: 5,276,843-5,337,088 HBE1, OR51B4, 2 more genes
    nsv3956270copy number variation1nstd168human GRCh38 chr11: 5,250,682-5,315,858 , GRCh37.p13 chr11: 5,271,912-5,337,088 HBG2, OR51AB1P, 3 more genes
    nsv3919565copy number variation1nstd102humanPathogenic GRCh38 chr11: 61,793-10,727,969 , GRCh37 chr11: 61,793-10,749,516 , NCBI36 chr11: 51,793-10,706,092 OR51A7, OR51F5P, 437 more genes
    nsv3918376copy number variation1nstd102humanPathogenic NCBI36 chr11: 128,203-5,440,733 , GRCh37.p13 chr11: 138,203-5,484,157 , GRCh38.p12 chr11: 138,203-5,462,927 HBG2, OR51T1, 262 more genes
    nsv3913735copy number variation1nstd102humanPathogenic GRCh37 chr11: 196,855-5,343,104 , GRCh38 chr11: 196,855-5,321,874 , NCBI36 chr11: 186,855-5,299,680 CDKN1C, LOC107984301, 246 more genes
    nsv3912558copy number variation1nstd102humanPathogenic GRCh37 chr11: 446,754-18,926,289 , GRCh38 chr11: 446,754-18,904,742 , NCBI36 chr11: 436,754-18,882,865 TRIM22, CSNK2A3, 546 more genes
    nsv3908873copy number variation2nstd102humanPathogenic GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576 IGHMBP2, SYTL2, 2829 more genes
    nsv3906221copy number variation1nstd102humanPathogenic GRCh37 chr11: 230,615-31,995,219 , GRCh38.p12 chr11: 230,615-31,973,673 PCNAP4, LIN7C, 688 more genes
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