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Items: 1 to 20 of 123

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5965915insertion1nstd209human GRCh38 chr1: 98,046,212-98,046,212 , GRCh37.p13 chr1: 98,511,768-98,511,768 MIR137HG, MIR137
    nsv5609285insertion2nstd207human GRCh38 chr1: 98,046,177-98,046,177 , GRCh37.p13 chr1: 98,511,733-98,511,733 MIR137HG, MIR137
    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
    nsv4756889insertion1nstd199human GRCh37 chr1: 98,511,726-98,511,726 , GRCh38.p12 chr1: 98,046,170-98,046,170 MIR137HG, MIR137
    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
    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
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv3916187copy number variation1nstd102humanPathogenic NCBI36 chr1: 97,510,536-104,123,269 , GRCh37.p13 chr1: 97,737,948-104,321,746 , GRCh38.p12 chr1: 97,272,392-103,779,124 SLC35A3, ACTG1P4, 80 more genes
    nsv3909776copy number variation1nstd102humanPathogenic GRCh37 chr1: 97,737,905-109,435,760 , GRCh38 chr1: 97,272,349-108,893,138 , NCBI36 chr1: 97,510,493-109,237,283 SNX7, LOC112268286, 133 more genes
    nsv3908393copy number variation1nstd102humanUncertain significance NCBI36 chr1: 98,073,209-98,508,881 , GRCh37 chr1: 98,300,621-98,736,293 , GRCh38 chr1: 97,835,065-98,270,737 MIR2682, DPYD, 6 more genes
    nsv3906578copy number variation1nstd102humanUncertain significance GRCh37 chr1: 96,590,001-99,560,081 , GRCh38 chr1: 96,124,445-99,094,525 , NCBI36 chr1: 96,362,589-99,332,669 DPYD-AS1, PLPPR5-AS1, 25 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
    nsv3893941copy number variation1nstd102humanPathogenic NCBI36 chr1: 97,648,746-111,014,655 , GRCh37 chr1: 97,876,158-111,213,132 , GRCh38 chr1: 97,410,602-110,670,510 RPSAP19, ATXN7L2, 196 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884558copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,054,724-111,671,707 , GRCh38.p12 chr1: 93,589,167-111,129,085 SLC25A24, LOC100271656, 265 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
    nsv3882464copy number variation1nstd102humanPathogenic GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985 LINC02607, RNVU1-19, 513 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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