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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099205copy number variation1nstd231human GRCh38.p12 chr1: 53,166,972-54,495,490 , GRCh37 chr1: 53,632,644-54,961,163 CPT2, DIO1, 32 more genes
    nsv7056085inversion1nstd229human GRCh38 chr1: 53,919,815-53,921,192 , GRCh37.p13 chr1: 54,385,488-54,386,865 IFT25
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv6651923copy number variation1nstd229human GRCh38 chr1: 53,924,492-53,934,542 , GRCh37.p13 chr1: 54,390,165-54,400,215 IFT25
    nsv6651711copy number variation1nstd229human GRCh38 chr1: 53,944,410-53,970,223 , GRCh37.p13 chr1: 54,410,083-54,435,896 LRRC42, IFT25
    nsv6651605copy number variation1nstd229human GRCh38 chr1: 53,800,014-54,034,733 , GRCh37.p13 chr1: 54,265,687-54,500,406 NDC1, RPL37P7, 7 more genes
    nsv6553288inversion1nstd223human GRCh38 chr1: 53,932,256-53,932,684 , GRCh37.p13 chr1: 54,397,929-54,398,357 IFT25
    nsv6546461inversion1nstd223human GRCh38 chr1: 53,919,973-53,920,977 , GRCh37.p13 chr1: 54,385,646-54,386,650 IFT25
    nsv6541990inversion1nstd223human GRCh38 chr1: 53,936,278-53,937,168 , GRCh37.p13 chr1: 54,401,951-54,402,841 IFT25
    nsv6324116copy number variation1nstd223human GRCh38 chr1: 53,928,942-53,929,356 , GRCh37.p13 chr1: 54,394,615-54,395,029 IFT25
    nsv5883027copy number variation1nstd209human GRCh38 chr1: 53,945,963-53,946,096 , GRCh37.p13 chr1: 54,411,636-54,411,769 LRRC42, IFT25
    nsv5722889mobile element insertion2nstd211human GRCh38 chr1: 53,935,467-53,935,467 , GRCh37.p13 chr1: 54,401,140-54,401,140 IFT25
    nsv5680433mobile element insertion2nstd211human GRCh38 chr1: 53,935,553-53,935,553 , GRCh37.p13 chr1: 54,401,226-54,401,226 IFT25
    nsv5397318mobile element insertion1nstd206human GRCh38 chr1: 53,935,467-53,935,534 , GRCh37.p13 chr1: 54,401,140-54,401,207 IFT25
    nsv5395029mobile element insertion1nstd206human GRCh38 chr1: 53,935,553-53,935,604 , GRCh37.p13 chr1: 54,401,226-54,401,277 IFT25
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5186005mobile element insertion1nstd203human GRCh38 chr1: 53,935,450-53,935,467 , GRCh37.p13 chr1: 54,401,123-54,401,140 IFT25
    nsv5185839mobile element insertion1nstd203human GRCh38 chr1: 53,935,553-53,935,553 , GRCh37.p13 chr1: 54,401,226-54,401,226 IFT25
    nsv5079973mobile element insertion1nstd203human GRCh38 chr1: 53,935,537-53,935,553 , GRCh37.p13 chr1: 54,401,210-54,401,226 IFT25
    nsv5062719mobile element insertion1nstd203human GRCh38 chr1: 53,928,204-53,928,218 , GRCh37.p13 chr1: 54,393,877-54,393,891 IFT25
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