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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 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
    nsv4594379copy number variation1nstd183human GRCh37 chr1: 23,884,553-23,885,540 , GRCh38.p12 chr1: 23,558,062-23,559,049 , GRCh38.p12 chr1|NW_014040926.1: 328,041-329,028 ID3
    nsv4580809copy number variation1nstd183human GRCh37 chr1: 23,884,427-23,886,586 , GRCh38.p12 chr1|NW_014040926.1: 327,915-330,074 , GRCh38.p12 chr1: 23,557,936-23,560,095 ID3
    nsv4580547copy number variation1nstd183human GRCh37 chr1: 23,885,376-23,885,535 , GRCh38.p12 chr1: 23,558,885-23,559,044 , GRCh38.p12 chr1|NW_014040926.1: 328,864-329,023 ID3
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 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
    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
    nsv3119656copy number variation2nstd151human GRCh37 chr1: 23,720,370-24,022,868 , GRCh38.p12 chr1|NW_014040926.1: 163,856-349,938 , GRCh38.p12 chr1: 23,393,877-23,696,378 TCEA3, ID3, 8 more genes
    nsv2749644copy number variation1nstd130human GRCh37 chr1: 23,877,204-23,897,721 , GRCh38.p12 chr1: 23,550,713-23,571,231 , GRCh38.p12 chr1|NW_014040926.1: 320,692-341,210 ID3, LOC105376859
    nsv1187829copy number variation1nstd113human NCBI36 chr1: 23,321,902-24,483,245 , GRCh37.p13 chr1: 23,449,315-24,610,658 , GRCh38.p12 chr1: 23,122,822-24,284,168 , GALE, 42 more genes
    nsv1146931inversion1nstd107human GRCh37 chr1: 6,858,651-214,875,307 , GRCh38.p12 chr1: 6,798,591-214,701,964 , ABCA4, 4151 more genes
    nsv1132997inversion1nstd106human GRCh37 chr1: 16,843,414-234,953,211 , GRCh38.p12 chr1: 16,516,919-234,817,464 , AGT, 4287 more genes
    nsv1130629copy number variation1nstd106human GRCh37 chr1: 16,926,343-149,118,854 , GRCh38.p12 chr1: 16,599,848-149,528,945 , LINC01361, 2341 more genes
    esv3815443copy number variation1estd192human GRCh37 chr1: 14,660,218-180,369,490 , GRCh38.p12 chr1: 14,333,723-180,400,355 , LOC105378768, 3374 more genes
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