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Items: 1 to 20 of 105

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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
    nsv5381206copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,122,490-151,585,008 , GRCh38.p12 chr1: 151,150,014-151,612,532 CGN, ZNF687-AS1, 21 more genes
    nsv5219564copy number variation1nstd204human GRCh38.p13 chr1: 151,301,601-151,394,300 , GRCh37.p13 chr1: 151,274,077-151,366,776 RFX5, RFX5-AS1, 2 more genes
    nsv5075533mobile element insertion1nstd203human GRCh38 chr1: 151,339,424-151,339,450 , GRCh37.p13 chr1: 151,311,900-151,311,926 RFX5
    nsv4897377copy number variation1nstd200human GRCh38 chr1: 151,337,302-151,339,474 , GRCh37.p13 chr1: 151,309,778-151,311,950 RFX5
    nsv4784213copy number variation1nstd200human GRCh37 chr1: 151,309,778-151,311,950 , GRCh38.p12 chr1: 151,337,302-151,339,474 RFX5
    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
    nsv4712598copy number variation1nstd195human GRCh37 chr1: 151,042,151-151,571,701 , GRCh38.p12 chr1: 151,069,675-151,599,225 PI4KB, PSMD4, 24 more genes
    nsv4593947copy number variation1nstd183human GRCh37 chr1: 151,318,878-151,319,693 , GRCh38.p12 chr1: 151,346,402-151,347,217 RFX5, RFX5-AS1
    nsv4579567copy number variation1nstd183human GRCh37 chr1: 151,318,938-151,319,693 , GRCh38.p12 chr1: 151,346,462-151,347,217 RFX5, RFX5-AS1
    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
    nsv3907566copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 149,228,433-149,823,877 , GRCh37 chr1: 150,961,809-151,557,253 , GRCh38 chr1: 150,989,333-151,584,777 PI4KB, PSMB4, 31 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
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877540copy number variation1nstd102humanPathogenic GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310 LCE1F, SPRR2G, 197 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3871409copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,179,825-151,377,786 , GRCh38.p12 chr1: 151,207,349-151,405,310 ZNF687, RFX5, 9 more genes
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