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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5622497insertion1nstd207human GRCh38 chr1: 157,548,334-157,548,334 , GRCh37.p13 chr1: 157,518,124-157,518,124 FCRL5
    nsv5420716copy number variation1nstd206human GRCh38 chr1: 157,524,487-157,527,789 , GRCh37.p13 chr1: 157,494,277-157,497,579 FCRL5
    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
    nsv5176990mobile element insertion1nstd203human GRCh38 chr1: 157,548,334-157,548,349 , GRCh37.p13 chr1: 157,518,124-157,518,139 FCRL5
    nsv4903937copy number variation1nstd200human GRCh38 chr1: 157,521,139-157,527,905 , GRCh37.p13 chr1: 157,490,929-157,497,695 FCRL5
    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
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4071321copy number variation1nstd166human GRCh37.p13 chr1: 157,494,252-157,497,621 , GRCh38.p12 chr1: 157,524,462-157,527,831 FCRL5
    nsv4058182copy number variation1nstd166human GRCh37.p13 chr1: 157,519,000-157,526,000 , GRCh38.p12 chr1: 157,549,210-157,556,210 FCRL5
    nsv4054374copy number variation1nstd166human GRCh37.p13 chr1: 157,517,000-157,611,000 , GRCh38.p12 chr1: 157,547,210-157,641,210 FCRL5, FCRL4
    nsv3968615insertion1nstd168human GRCh38 chr1: 157,544,096-157,551,997 , GRCh37.p13 chr1: 157,513,886-157,521,787 FCRL5
    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
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874 ARHGEF2-AS2, INSRR, 131 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
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884829copy number variation1nstd102humanUncertain significance GRCh37 chr1: 157,347,489-157,804,172 , GRCh38.p12 chr1: 157,377,699-157,834,382 SONP1, FCRL1, 7 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
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