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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5618294insertion1nstd207human GRCh38 chr1: 11,299,076-11,299,076 , GRCh37.p13 chr1: 11,359,133-11,359,133 UBIAD1
    nsv5557473sequence alteration1nstd206human GRCh38 chr1: 10,919,048-11,710,696 , GRCh37.p13 chr1: 10,979,105-11,770,753 , ANGPTL7, 26 more genes
    nsv5423578copy number variation1nstd206human GRCh38 chr1: 11,299,076-11,299,142 , GRCh37.p13 chr1: 11,359,133-11,359,199 UBIAD1
    nsv5370944translocation1nstd200human GRCh38 chr1: 11,295,557-11,295,557 , GRCh38 chr1: 20,273,730-20,273,730 , GRCh37.p13 chr1: 11,355,614-11,355,614 , GRCh37.p13 chr1: 20,600,223-20,600,223 UBIAD1, LOC105376828
    nsv5337102translocation1nstd200human GRCh37 chr1: 11,355,615-11,355,615 , GRCh37 chr1: 20,600,223-20,600,223 , GRCh38.p12 chr1: 11,295,558-11,295,558 , GRCh38.p12 chr1: 20,273,730-20,273,730 UBIAD1, LOC105376828
    nsv5062702mobile element insertion1nstd203human GRCh38 chr1: 11,283,846-11,283,862 , GRCh37.p13 chr1: 11,343,903-11,343,919 UBIAD1
    nsv4889883copy number variation1nstd200human GRCh38 chr1: 11,292,627-11,306,231 , GRCh37.p13 chr1: 11,352,684-11,366,288 UBIAD1
    nsv4782965copy number variation1nstd200human GRCh37 chr1: 11,352,684-11,366,288 , GRCh38.p12 chr1: 11,292,627-11,306,231 UBIAD1
    nsv4728526copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,192,259-11,432,433 , GRCh38.p12 chr1: 11,132,202-11,372,376 LOC105376737, LOC105376740, 9 more genes
    nsv4684113copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 11,053,101-11,336,968 , GRCh38.p12 chr1: 10,993,044-11,276,911 MTOR, EXOSC10, 11 more genes
    nsv4681090copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,072,691-11,994,922 , GRCh38.p12 chr1: 11,012,634-11,934,865 FBXO44, LINC01647, 36 more genes
    nsv4674113copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,086,990-11,429,365 , GRCh38.p12 chr1: 11,026,933-11,369,308 RNU6-537P, UBE2V2P3, 13 more genes
    nsv4674003copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 9,852,396-11,909,475 , GRCh38.p12 chr1: 9,792,338-11,849,418 CLCN6, CORT, 59 more genes
    nsv4579013copy number variation1nstd183human GRCh37 chr1: 11,065,971-11,433,766 , GRCh38.p12 chr1: 11,005,914-11,373,709 RPL39P6, LOC105376739, 14 more genes
    nsv4458835mobile element insertion1nstd166human GRCh37.p13 chr1: 11,346,589-11,346,589 , GRCh38.p12 chr1: 11,286,532-11,286,532 UBIAD1
    nsv4458613mobile element insertion1nstd166human GRCh37.p13 chr1: 11,343,903-11,343,903 , GRCh38.p12 chr1: 11,283,846-11,283,846 UBIAD1
    nsv4454705copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,246,640-12,841,900 , GRCh38.p12 chr1: 10,186,582-12,781,757 LINC01647, MIR7846, 73 more genes
    nsv4452902copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,278,039-11,493,814 , GRCh38.p12 chr1: 11,217,982-11,433,757 UBIAD1, LOC105376737, 7 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
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