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Items: 1 to 20 of 452

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5956505insertion1nstd209human GRCh38 chr2: 108,843,869-108,843,869 , GRCh37.p13 chr2: 109,460,325-109,460,325 CCDC138
    nsv5887316copy number variation1nstd209human GRCh38 chr2: 108,853,738-108,853,885 , GRCh37.p13 chr2: 109,470,194-109,470,341 CCDC138
    nsv5881132copy number variation1nstd209human GRCh38 chr2: 108,882,895-108,882,982 , GRCh37.p13 chr2: 109,499,351-109,499,438 CCDC138
    nsv5877444copy number variation1nstd209human GRCh38 chr2: 108,861,734-108,861,789 , GRCh37.p13 chr2: 109,478,190-109,478,245 CCDC138
    nsv5830576copy number variation1nstd209human GRCh38 chr2: 108,828,024-108,829,023 , GRCh37.p13 chr2: 109,444,480-109,445,479 CCDC138
    nsv5725439mobile element insertion2nstd211human GRCh38 chr2: 108,834,226-108,834,226 , GRCh37.p13 chr2: 109,450,682-109,450,682 CCDC138
    nsv5667399inversion1nstd207human GRCh38 chr2: 108,527,822-109,733,036 , GRCh37.p13 chr2: 109,144,278-110,490,613 , LIMS1, 20 more genes
    nsv5623784insertion1nstd207human GRCh38 chr2: 108,834,215-108,834,215 , GRCh37.p13 chr2: 109,450,671-109,450,671 CCDC138
    nsv5622270insertion1nstd207human GRCh38 chr2: 108,853,976-108,853,976 , GRCh37.p13 chr2: 109,470,432-109,470,432 CCDC138
    nsv5564250copy number variation1nstd102humanUncertain significance GRCh37 chr2: 109,336,063-109,547,470 , GRCh38.p12 chr2: 108,719,607-108,931,014 EDAR, RANBP2, 2 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 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
    nsv5449793copy number variation1nstd206human GRCh38 chr2: 108,864,037-108,864,090 , GRCh37.p13 chr2: 109,480,493-109,480,546 CCDC138
    nsv5441456copy number variation1nstd206human GRCh38 chr2: 108,853,738-108,853,893 , GRCh37.p13 chr2: 109,470,194-109,470,349 CCDC138
    nsv5381336copy number variation1nstd102humanUncertain significance GRCh37 chr2: 109,336,063-109,579,739 , GRCh38.p12 chr2: 108,719,607-108,963,283 RPL39P16, EDAR, 2 more genes
    nsv5361013translocation1nstd200human GRCh38 chr2: 108,879,510-108,879,510 , GRCh38 chr2: 108,879,351-108,879,351 , GRCh37.p13 chr2: 109,495,807-109,495,807 , GRCh37.p13 chr2: 109,495,966-109,495,966 CCDC138
    nsv5361012translocation1nstd200human GRCh38 chr2: 108,847,446-108,847,446 , GRCh38 chr2: 108,847,508-108,847,508 , GRCh37.p13 chr2: 109,463,902-109,463,902 , GRCh37.p13 chr2: 109,463,964-109,463,964 CCDC138
    nsv5337641translocation1nstd200human GRCh37 chr2: 109,499,230-109,499,230 , GRCh37 chr2: 109,501,489-109,501,489 , GRCh38.p12 chr2: 108,882,774-108,882,774 , GRCh38.p12 chr2: 108,885,033-108,885,033 CCDC138
    nsv5336987translocation1nstd200human GRCh37 chr2: 109,501,471-109,501,471 , GRCh37 chr2: 133,707,197-133,707,197 , GRCh38.p12 chr2: 108,885,015-108,885,015 , GRCh38.p12 chr2: 132,949,624-132,949,624 CCDC138, NCKAP5, 1 more genes
    nsv5297851copy number variation1nstd204human GRCh38.p13 chr2: 108,742,138-109,490,060 , GRCh37.p13 chr2: 109,358,594-110,106,516 , RANBP2, 8 more genes
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