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Items: 1 to 20 of 119

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5968604inversion1nstd209human GRCh38 chr2: 49,436,021-59,087,697 , GRCh37.p13 chr2: 49,663,159-59,314,832 , ACYP2, 95 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
    nsv5440521copy number variation1nstd206human GRCh38 chr2: 57,004,850-57,240,285 , GRCh37.p13 chr2: 57,231,985-57,467,420 EIF2S2P7
    nsv5296320copy number variation1nstd204human GRCh38.p13 chr2: 57,004,826-57,240,308 , GRCh37.p13 chr2: 57,231,961-57,467,443 EIF2S2P7
    nsv5218171copy number variation1nstd204human GRCh38.p13 chr2: 57,004,801-57,197,600 , GRCh37.p13 chr2: 57,231,936-57,424,735 EIF2S2P7
    nsv5210009copy number variation1nstd204human GRCh38.p13 chr2: 57,039,674-57,062,253 , GRCh37.p13 chr2: 57,266,809-57,289,388 EIF2S2P7
    nsv5030738inversion1nstd200human GRCh38 chr2: 53,702,002-58,642,705 , GRCh37.p13 chr2: 53,929,139-58,869,840 , LINC01122, 71 more genes
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4892865copy number variation1nstd200human GRCh38 chr2: 57,048,513-57,139,875 , GRCh37.p13 chr2: 57,275,648-57,367,010 EIF2S2P7
    nsv4892862copy number variation1nstd200human GRCh38 chr2: 57,004,850-57,240,285 , GRCh37.p13 chr2: 57,231,985-57,467,420 EIF2S2P7
    nsv4770280copy number variation1nstd200human GRCh37 chr2: 57,231,985-57,467,420 , GRCh38.p12 chr2: 57,004,850-57,240,285 EIF2S2P7
    nsv4451302copy number variation1nstd102humanPathogenic GRCh37 chr2: 56,175,876-60,780,215 , GRCh38.p12 chr2: 55,948,741-60,553,080 BCL11A, VRK2, 31 more genes
    nsv4410038copy number variation1nstd174human GRCh37 chr2: 57,043,023-57,476,901 , GRCh38.p12 chr2: 56,815,888-57,249,766 , EIF2S2P7
    nsv4070013copy number variation1nstd166human GRCh37.p13 chr2: 57,175,000-57,281,000 , GRCh38.p12 chr2: 56,947,865-57,053,865 EIF2S2P7
    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
    nsv3905626copy number variation1nstd102humanPathogenic GRCh37 chr2: 40,965,422-58,090,956 , GRCh38 chr2: 40,738,282-57,863,821 , NCBI36 chr2: 40,818,926-57,944,460 RNU6-433P, RNU6-997P, 220 more genes
    nsv3904317copy number variation1nstd102humanPathogenic NCBI36 chr2: 55,651,218-60,600,483 , GRCh38 chr2: 55,570,578-60,519,844 , GRCh37 chr2: 55,797,714-60,746,979 BCL11A, VRK2, 37 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
    nsv3892726copy number variation1nstd102humanPathogenic NCBI36 chr2: 56,818,693-62,554,307 , GRCh38 chr2: 56,738,054-62,473,668 , GRCh37 chr2: 56,965,189-62,700,803 RPS29P10, RN7SL51P, 66 more genes
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