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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5970408inversion1nstd209human GRCh38 chr19: 2,282,477-7,636,587 , GRCh37.p13 chr19: 2,282,476-7,701,473 , TLE5, 195 more genes
    nsv5942775copy number variation1nstd209human GRCh38 chr19: 2,865,023-7,153,898 , GRCh37.p13 chr19: 2,865,021-7,153,909 , GNA15-DT, 159 more genes
    nsv5027404copy number variation1nstd200human GRCh38 chr19: 5,277,450-5,281,200 , GRCh37.p13 chr19: 5,277,461-5,281,211 PTPRS, RPL32P34
    nsv4852715copy number variation1nstd200human GRCh37 chr19: 5,276,589-5,277,168 , GRCh38.p12 chr19: 5,276,578-5,277,157 PTPRS, RPL32P34
    nsv4262285copy number variation1nstd166human GRCh37.p13 chr19: 5,276,688-5,279,154 , GRCh38.p12 chr19: 5,276,677-5,279,143 RPL32P34, PTPRS
    nsv3969625insertion1nstd168human GRCh38 chr19: 5,278,250-5,282,284 , GRCh37.p13 chr19: 5,278,261-5,282,295 PTPRS, RPL32P34
    nsv3924102copy number variation1nstd102humanPathogenic GRCh38 chr19: 259,395-6,795,611 , GRCh37 chr19: 259,395-6,795,622 , NCBI36 chr19: 210,395-6,746,622 POLR2E, PWWP3A, 283 more genes
    nsv3923313copy number variation1nstd102humanPathogenic GRCh37 chr19: 4,934,897-6,501,653 , GRCh38 chr19: 4,934,885-6,501,642 , NCBI36 chr19: 4,885,897-6,452,653 LOC105372253, FUT3, 47 more genes
    nsv3914351copy number variation1nstd102humanPathogenic NCBI36 chr19: 1,923,244-9,620,555 , GRCh38 chr19: 1,972,245-9,648,879 , GRCh37 chr19: 1,972,244-9,759,555 SEMA6B, RANBP3-DT, 299 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 ZNF321P, ZNF861P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 BABAM1, BEST2, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 LENG8, SYDE1, 2408 more genes
    nsv3890584copy number variation1nstd102humanPathogenic GRCh37 chr19: 3,120,160-9,732,820 , GRCh38.p12 chr19: 3,120,162-9,622,144 PCP2, EIF1P6, 250 more genes
    nsv3160930copy number variation1nstd151human GRCh37 chr19: 5,032,899-5,286,232 , GRCh38.p12 chr19: 5,032,888-5,286,221 PTPRS, RPL32P34, 1 more genes
    nsv2787615copy number variation1nstd132human NCBI36 chr19: 5,205,970-5,280,001 , GRCh37.p13 chr19: 5,254,970-5,329,001 , GRCh38.p12 chr19: 5,254,959-5,328,990 LOC105372253, PTPRS, 1 more genes
    nsv2768220copy-neutral loss of heterozygosity1nstd125human GRCh38.p12 chr19: 5,092,438-17,933,476 , GRCh37 chr19: 5,092,449-18,044,285 , ACP5, 562 more genes
    nsv2768219copy-neutral loss of heterozygosity1nstd125human GRCh38.p12 chr19: 260,911-20,692,745 , GRCh37 chr19: 260,911-20,875,551 , ACP5, 914 more genes
    nsv2768218copy-neutral loss of heterozygosity1nstd125human GRCh38.p12 chr19: 260,911-19,745,645 , GRCh37 chr19: 260,911-19,856,454 , ACP5, 867 more genes
    nsv2768217copy-neutral loss of heterozygosity1nstd125human GRCh38.p12 chr19: 260,911-16,062,156 , GRCh37 chr19: 260,911-16,172,966 , ACP5, 724 more genes
    nsv2766848copy number variation1nstd130human NCBI36 chr19: 341,627-8,021,720 , GRCh37.p13 chr19: 390,627-8,115,720 , GRCh38.p12 chr19: 390,627-8,050,836 , TRF-GAA1-6, 335 more genes
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