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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381077copy number variation1nstd102humanUncertain significance GRCh37 chr1: 92,941,566-92,949,064 , GRCh38.p12 chr1: 92,476,009-92,483,507 GFI1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768351copy number variation1nstd102humanPathogenic GRCh37 chr1: 92,405,898-94,018,197 , GRCh38.p12 chr1: 91,940,341-93,552,640 MND1P1, RN7SKP123, 39 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4517625copy number variation1nstd166human GRCh37.p13 chr1: 92,952,358-92,952,414 , GRCh38.p12 chr1: 92,486,801-92,486,857 GFI1
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3911827copy number variation1nstd102humanUncertain significance NCBI36 chr1: 92,600,531-92,884,010 , GRCh37.p13 chr1: 92,827,943-93,111,422 , GRCh38.p12 chr1: 92,362,386-92,645,865 HMGB3P9, EVI5, 5 more genes
    nsv3898327copy number variation1nstd102humanPathogenic GRCh38 chr1: 83,457,325-104,273,917 , GRCh37 chr1: 83,923,008-104,816,539 , NCBI36 chr1: 83,695,596-104,618,062 LINC01773, LOC107985095, 322 more genes
    nsv3885734copy number variation1nstd102humanUncertain significance GRCh37 chr1: 92,751,767-92,958,556 , GRCh38.p12 chr1: 92,286,210-92,492,999 RN7SL824P, GLMN, 2 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
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3873752copy number variation1nstd102humanUncertain significance GRCh37 chr1: 91,668,330-93,539,185 , GRCh38.p12 chr1: 91,202,773-93,073,628 RNU4-59P, MND1P1, 38 more genes
    nsv3168056copy number variation1nstd158human GRCh38.p12 chr1: 84,243,714-179,997,709 , GRCh37 chr1: 84,709,397-179,966,844 , ABCA4, 1909 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv3113767copy number variation1nstd145human GRCh37 chr1: 92,945,581-92,950,790 , GRCh38.p12 chr1: 92,480,024-92,485,233 GFI1
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