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Items: 1 to 20 of 164

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5074155mobile element insertion1nstd203human GRCh38 chr1: 100,172,460-100,172,460 , GRCh37.p13 chr1: 100,638,016-100,638,016 LRRC39
    nsv5062497mobile element insertion1nstd203human GRCh38 chr1: 100,175,579-100,175,593 , GRCh37.p13 chr1: 100,641,135-100,641,149 LRRC39
    nsv4897192copy number variation1nstd200human GRCh38 chr1: 100,175,845-100,175,993 , GRCh37.p13 chr1: 100,641,401-100,641,549 LRRC39
    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
    nsv4536609insertion1nstd166human GRCh37.p13 chr1: 100,615,260-100,615,260 , GRCh38.p12 chr1: 100,149,704-100,149,704 TRMT13, LRRC39
    nsv4458440mobile element insertion1nstd166human GRCh37.p13 chr1: 100,644,296-100,644,296 , GRCh38.p12 chr1: 100,178,740-100,178,740 LRRC39
    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
    nsv4071222copy number variation1nstd166human GRCh37.p13 chr1: 100,620,512-100,621,053 , GRCh38.p12 chr1: 100,154,956-100,155,497 LRRC39
    nsv4062595copy number variation1nstd166human GRCh37.p13 chr1: 100,397,058-100,659,219 , GRCh38.p12 chr1: 99,931,502-100,193,663 DBT, SLC35A3, 6 more genes
    nsv4056931copy number variation1nstd166human GRCh37.p13 chr1: 100,626,544-100,626,625 , GRCh38.p12 chr1: 100,160,988-100,161,069 LRRC39
    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
    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
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