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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5431196copy number variation1nstd206human GRCh38 chr1: 152,155,629-152,156,221 , GRCh37.p13 chr1: 152,128,105-152,128,697 RPTN
    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
    nsv4903861copy number variation1nstd200human GRCh38 chr1: 152,128,493-152,498,366 , GRCh37.p13 chr1: 152,100,969-152,470,842 , RPTN, 6 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
    nsv4711935copy number variation1nstd195human GRCh37 chr1: 151,624,751-152,167,951 , GRCh38.p12 chr1: 151,652,275-152,195,475 , S100A11, 28 more genes
    nsv4674535copy number variation1nstd102humanUncertain significance GRCh37 chr1: 152,000,477-152,223,996 , GRCh38.p12 chr1: 152,028,001-152,251,520 S100A11, LOC100131107, 8 more genes
    nsv4674246copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,798,754-152,306,536 , GRCh38.p12 chr1: 151,826,278-152,334,060 LOC105371442, PUDPP2, 18 more genes
    nsv4658250copy number variation1nstd186human GRCh37 chr1: 152,128,085-152,128,697 , GRCh38.p12 chr1: 152,155,609-152,156,221 RPTN
    nsv4593951copy number variation1nstd183human GRCh37 chr1: 152,128,085-152,128,697 , GRCh38.p12 chr1: 152,155,609-152,156,221 RPTN
    nsv4579451copy number variation1nstd183human GRCh37 chr1: 151,817,998-152,225,041 , GRCh38.p12 chr1: 151,845,522-152,252,565 , LOC105371442, 16 more genes
    nsv4454021copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,850,071-152,295,520 , GRCh38.p12 chr1: 151,877,595-152,323,044 HRNR, S100A11, 14 more genes
    nsv4407319copy number variation1nstd174human GRCh37 chr1: 151,832,796-152,236,760 , GRCh38.p12 chr1: 151,860,320-152,264,284 , KRT8P28, 14 more genes
    nsv4405029copy number variation1nstd174human GRCh37 chr1: 152,128,859-152,129,350 , GRCh38.p12 chr1: 152,156,383-152,156,874 RPTN
    nsv4069865copy number variation1nstd166human GRCh37.p13 chr1: 152,128,105-152,128,697 , GRCh38.p12 chr1: 152,155,629-152,156,221 RPTN
    nsv4053220copy number variation1nstd166human GRCh37.p13 chr1: 152,124,804-152,124,912 , GRCh38.p12 chr1: 152,152,328-152,152,436 RPTN
    nsv3949408copy number variation1nstd167human GRCh37 chr1: 152,129,065-152,129,101 , GRCh38.p12 chr1: 152,156,589-152,156,625 RPTN
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
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