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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5217269copy number variation1nstd204human GRCh38.p13 chr1: 155,315,801-155,621,100 , GRCh37.p13 chr1: 155,285,592-155,590,891 DAP3P1, RNU6-1297P, 13 more genes
    nsv4903915copy number variation1nstd200human GRCh38 chr1: 155,328,653-155,329,168 , GRCh37.p13 chr1: 155,298,444-155,298,959 RUSC1
    nsv4784302copy number variation1nstd200human GRCh37 chr1: 155,298,666-155,299,125 , GRCh38.p12 chr1: 155,328,875-155,329,334 RUSC1
    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
    nsv4454226copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,294,636-155,452,240 , GRCh38 chr1: 155,324,845-155,482,449 RUSC1, ASH1L, 4 more genes
    nsv4451749copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,252,202-155,293,625 , GRCh38 chr1: 155,282,411-155,323,834 FDPS, HCN3, 3 more genes
    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
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 SMU1P1, LOC100419798, 152 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
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 ADAR, BGLAP, 136 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
    nsv3892457copy number variation1nstd102humanUncertain significance GRCh38 chr1: 155,182,457-155,787,428 , GRCh37 chr1: 155,154,933-155,757,219 , NCBI36 chr1: 153,421,557-154,023,843 DAP3P1, GBA1LP, 35 more genes
    nsv3890833copy number variation1nstd102humanUncertain significance NCBI36 chr1: 153,245,646-153,700,678 , GRCh37 chr1: 154,979,022-155,434,054 , GRCh38 chr1: 155,006,546-155,464,263 CLK2, DCST2, 32 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 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
    nsv3881832copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,285,951-155,289,254 , GRCh38 chr1: 155,316,165-155,319,468 RUSC1-AS1, RUSC1, 1 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
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