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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5887494copy number variation1nstd209human GRCh38 chr1: 192,263,809-193,558,335 , GRCh37.p13 chr1: 192,232,939-193,527,465 , LINC01031, 22 more genes
    nsv5828812copy number variation2nstd209human GRCh38 chr1: 193,179,439-193,180,978 , GRCh37.p13 chr1: 193,148,569-193,150,108 CDC73, B3GALT2
    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
    nsv5219840copy number variation1nstd204human GRCh38.p13 chr1: 193,177,239-193,210,212 , GRCh37.p13 chr1: 193,146,369-193,179,342 B3GALT2, CDC73
    nsv5219315copy number variation1nstd204human GRCh37.p13 chr1: 192,992,031-193,319,030 , GRCh38.p13 chr1: 193,022,901-193,349,900 , RO60, 7 more genes
    nsv4891275copy number variation1nstd200human GRCh38 chr1: 193,183,589-193,184,982 , GRCh37.p13 chr1: 193,152,719-193,154,112 CDC73, B3GALT2
    nsv4891274copy number variation1nstd200human GRCh38 chr1: 193,182,012-193,182,953 , GRCh37.p13 chr1: 193,151,142-193,152,083 CDC73, B3GALT2
    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
    nsv4682644copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 193,091,331-193,219,842 , GRCh38.p12 chr1: 193,122,201-193,250,712 CDC73, B3GALT2, 1 more genes
    nsv4682230copy number variation1nstd102humanUncertain significance GRCh37 chr1: 193,110,970-193,219,852 , GRCh38.p12 chr1: 193,141,840-193,250,722 CDC73, B3GALT2
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4580226copy number variation2nstd183human GRCh37 chr1: 193,148,014-193,149,408 , GRCh38.p12 chr1: 193,178,884-193,180,278 CDC73, B3GALT2
    nsv4579881copy number variation1nstd183human GRCh37 chr1: 193,126,047-193,297,965 , GRCh38.p12 chr1: 193,156,917-193,328,835 B3GALT2, LINC01031, 1 more genes
    nsv4459808mobile element insertion1nstd166human GRCh37.p13 chr1: 193,154,754-193,154,754 , GRCh38.p12 chr1: 193,185,624-193,185,624 CDC73, B3GALT2
    nsv4453554copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 193,091,321-193,219,852 , GRCh38 chr1: 193,122,191-193,250,722 B3GALT2, CDC73, 1 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4063817copy number variation1nstd166human GRCh37.p13 chr1: 193,039,274-193,166,715 , GRCh38.p12 chr1: 193,070,144-193,197,585 , RO60, 4 more genes
    nsv4063366copy number variation1nstd166human GRCh37.p13 chr1: 193,151,142-193,152,083 , GRCh38.p12 chr1: 193,182,012-193,182,953 B3GALT2, CDC73
    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
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