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Items: 1 to 20 of 257

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148065copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,207,925-155,210,903 , GRCh38.p12 chr1: 155,238,134-155,241,112 , GRCh38.p12 chr1|NW_003315906.1: 43,157-46,135 GBA1
    nsv7099235copy number variation1nstd231human GRCh38.p12 chr1: 154,116,919-155,715,830 , GRCh37 chr1: 154,089,395-155,685,621 ADAR, CHRNB2, 80 more genes
    nsv7098842copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 155,204,786-155,205,102 , GRCh38.p12 chr1: 155,234,995-155,235,311 GBA1
    nsv7098758copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 155,204,687-155,204,855 , GRCh38 chr1: 155,234,896-155,235,064 GBA1, MTX1LP
    nsv7057328inversion1nstd229human GRCh38 chr1: 154,938,555-155,849,490 , GRCh37.p13 chr1: 154,911,031-155,819,281 ENTREP3, YY1AP1, 57 more genes
    nsv7056666inversion1nstd229human GRCh38 chr1: 151,403,323-155,722,147 , GRCh37.p13 chr1: 151,375,799-155,691,938 ILF2, SPRR2C, 219 more genes
    nsv7044458inversion1nstd229human GRCh38 chr1: 150,355,899-155,246,175 , GRCh37.p13 chr1: 150,440,214-155,215,966 LCE2C, MUC1, 254 more genes
    nsv7042502inversion1nstd229human GRCh38 chr1: 150,301,267-155,517,761 , GRCh37.p13 chr1: 150,440,214-155,487,552 LINGO4, CELF3, 268 more genes
    nsv7041246inversion1nstd229human GRCh38 chr1: 153,232,460-155,277,038 , GRCh37.p13 chr1: 153,204,936-155,246,829 INTS3, GBA1LP, 111 more genes
    nsv7041047inversion1nstd229human GRCh38 chr1: 154,596,558-159,585,927 , GRCh37.p13 chr1: 154,569,034-159,555,717 ADAR, SNORA80E, 204 more genes
    nsv6642367copy number variation1nstd229human GRCh38 chr1: 155,225,859-155,241,937 , GRCh37.p13 chr1: 155,195,650-155,211,728 GBA1LP, MTX1LP, 1 more genes
    nsv6634393copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 155,204,786-155,205,635 , GRCh38.p12 chr1: 155,234,995-155,235,844 , GRCh38.p12 chr1|NW_003315906.1: 40,018-40,867 GBA1
    nsv6625775copy number variation1nstd224human GRCh37 chr1: 155,186,729-155,210,876 , GRCh38.p12 chr1: 155,216,938-155,241,085 GBA1LP, GBA1, 1 more genes
    nsv6326800copy number variation1nstd223human GRCh38 chr1: 155,229,201-155,235,300 , GRCh37.p13 chr1: 155,198,992-155,205,091 GBA1, MTX1LP
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 PRPF3, KHDC4, 352 more genes
    nsv6310564copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,205,540-155,205,595 , GRCh38 chr1: 155,235,749-155,235,804 GBA1
    nsv6310523copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,141,761-156,851,434 , GRCh38.p12 chr1: 154,169,285-156,881,642 MIR555, CFAP141, 135 more genes
    nsv6133737copy number variation1nstd213human GRCh37 chr1: 153,820,000-155,320,001 , GRCh38.p12 chr1: 153,847,524-155,350,210 GBA1LP, PKLR, 81 more genes
    nsv6133560copy number variation1nstd213human GRCh37 chr1: 153,460,000-155,250,001 , GRCh38.p12 chr1: 153,487,524-155,280,210 CKS1B, ILF2, 97 more genes
    nsv6133504copy number variation1nstd213human GRCh37 chr1: 154,420,000-155,500,001 , GRCh38.p12 chr1: 154,447,524-155,530,210 EFNA1, GBA1LP, 51 more genes
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