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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137070copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 154,247,426-154,248,177 , GRCh38.p12 chr1: 154,274,950-154,275,701 HAX1
    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
    nsv7095320copy number variation1nstd102humanPathogenic GRCh37 chr1: 153,963,273-154,580,482 , GRCh38.p12 chr1: 153,990,797-154,608,006 RNU6-239P, ATP8B2, 30 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
    nsv6315304copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,273,830-154,273,888 , GRCh37 chr1: 154,246,306-154,246,364 HAX1
    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
    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
    nsv6133734copy number variation1nstd213human GRCh37 chr1: 150,350,000-154,440,001 , GRCh38.p12 chr1: 150,377,524-154,467,525 , MCL1, 216 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
    nsv6133503copy number variation1nstd213human GRCh37 chr1: 154,150,000-154,350,001 , GRCh38.p12 chr1: 154,177,524-154,377,525 TPM3, UBAP2L, 12 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5211686copy number variation1nstd204human GRCh38.p13 chr1: 153,974,901-155,189,600 , GRCh37.p13 chr1: 153,947,377-155,161,231 JTB, PYGO2-AS1, 56 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4681082copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 154,247,406-154,248,197 , GRCh38.p12 chr1: 154,274,930-154,275,721 HAX1
    nsv4673922copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,659,094-154,307,972 , GRCh38.p12 chr1: 153,686,618-154,335,496 GATAD2B, MIR8083, 33 more genes
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