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Items: 1 to 20 of 143

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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
    nsv5879032copy number variation1nstd209human GRCh38 chr1: 192,705,901-192,714,498 , GRCh37.p13 chr1: 192,675,031-192,683,628 MIR4426, RPS27AP5
    nsv5450976copy number variation1nstd206human GRCh38 chr1: 192,705,904-192,714,499 , GRCh37.p13 chr1: 192,675,034-192,683,629 MIR4426, RPS27AP5
    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
    nsv5354133translocation1nstd200human GRCh38 chr1: 192,716,611-192,716,611 , GRCh38 chr1: 192,716,694-192,716,694 , GRCh37.p13 chr1: 192,685,741-192,685,741 , GRCh37.p13 chr1: 192,685,824-192,685,824 MIR4426, RPS27AP5
    nsv4904119copy number variation1nstd200human GRCh38 chr1: 187,280,074-192,928,506 , GRCh37.p13 chr1: 187,249,206-192,897,636 MIR4426, LINC01701, 40 more genes
    nsv4891254copy number variation1nstd200human GRCh38 chr1: 192,705,904-192,714,499 , GRCh37.p13 chr1: 192,675,034-192,683,629 MIR4426, RPS27AP5
    nsv4789024copy number variation1nstd200human GRCh37 chr1: 192,675,034-192,683,629 , GRCh38.p12 chr1: 192,705,904-192,714,499 MIR4426, RPS27AP5
    nsv4781323copy number variation1nstd200human GRCh37 chr1: 187,249,206-192,897,636 , GRCh38.p12 chr1: 187,280,074-192,928,506 LOC105371657, RPS27AP5, 40 more genes
    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
    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
    nsv4594170copy number variation1nstd183human GRCh37 chr1: 192,675,031-192,683,629 , GRCh38.p12 chr1: 192,705,901-192,714,499 MIR4426, RPS27AP5
    nsv4579878copy number variation2nstd183human GRCh37 chr1: 192,675,218-192,683,546 , GRCh38.p12 chr1: 192,706,088-192,714,416 MIR4426, RPS27AP5
    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
    nsv4401563copy number variation1nstd174human GRCh37 chr1: 192,675,005-192,683,629 , GRCh38.p12 chr1: 192,705,875-192,714,499 RPS27AP5, MIR4426
    nsv4068335copy number variation1nstd166human GRCh37.p13 chr1: 192,601,282-192,685,589 , GRCh38.p12 chr1: 192,632,152-192,716,459 RGS13, LOC107985241, 2 more genes
    nsv4066798copy number variation1nstd166human GRCh37.p13 chr1: 192,675,034-192,683,629 , GRCh38.p12 chr1: 192,705,904-192,714,499 RPS27AP5, MIR4426
    nsv3966324copy number variation1nstd168human GRCh38 chr1: 192,714,875-192,745,703 , GRCh37.p13 chr1: 192,684,005-192,714,833 MIR4426, RPS27AP5
    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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