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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5935005copy number variation1nstd209human GRCh38 chr20: 18,170,776-18,172,338 , GRCh37.p13 chr20: 18,151,420-18,152,982 KAT14
    nsv5886290copy number variation1nstd209human GRCh38 chr20: 18,170,732-18,172,631 , GRCh37.p13 chr20: 18,151,376-18,153,275 KAT14
    nsv5530876copy number variation1nstd206human GRCh38 chr20: 18,170,815-18,172,324 , GRCh37.p13 chr20: 18,151,459-18,152,968 KAT14
    nsv5517840copy number variation1nstd206human GRCh38 chr20: 18,176,647-18,176,699 , GRCh37.p13 chr20: 18,157,291-18,157,343 KAT14
    nsv5025180copy number variation1nstd200human GRCh38 chr20: 18,129,594-18,147,866 , GRCh37.p13 chr20: 18,110,238-18,128,510 PET117, KAT14
    nsv4676419copy number variation1nstd102humanPathogenic GRCh37 chr20: 8,571,696-22,088,650 , GRCh38.p12 chr20: 8,591,049-22,108,012 PGAM3P, EEF1A1P34, 182 more genes
    nsv4509895mobile element insertion1nstd166human GRCh37.p13 chr20: 18,167,352-18,167,352 , GRCh38.p12 chr20: 18,186,708-18,186,708 KAT14
    nsv4382417copy number variation1nstd173human GRCh37 chr20: 18,123,940-18,199,405 , GRCh38.p12 chr20: 18,143,296-18,218,761 KAT14, GGCTP2, 1 more genes
    nsv4370212copy number variation1nstd173human GRCh37 chr20: 17,790,478-18,138,948 , GRCh38.p12 chr20: 17,809,833-18,158,304 , RNU6-192P, 11 more genes
    nsv4350090copy number variation1nstd102humanPathogenic GRCh37 chr20: 11,716,825-19,331,055 , GRCh38.p12 chr20: 11,736,177-19,350,411 ENSAP1, BANF2, 107 more genes
    nsv4349190copy number variation1nstd102humanPathogenic GRCh37 chr20: 61,568-26,305,479 , GRCh38.p12 chr20: 80,927-26,324,843 LOC105372582, LOC101929937, 473 more genes
    nsv4336704sequence alteration1nstd166human GRCh37.p13 chr20: 8,105,854-23,795,733 , GRCh38.p12 chr20: 8,125,207-23,815,096 , BFSP1, 242 more genes
    nsv4292224copy number variation1nstd166human GRCh37.p13 chr20: 18,127,043-18,130,386 , GRCh38.p12 chr20: 18,146,399-18,149,742 KAT14
    nsv4287894copy number variation1nstd166human GRCh37.p13 chr20: 18,122,298-18,122,420 , GRCh38.p12 chr20: 18,141,654-18,141,776 KAT14, PET117
    nsv3922272copy number variation1nstd102humanPathogenic GRCh38 chr20: 80,106-30,227,427 , NCBI36 chr20: 8,747-28,075,764 , GRCh37 chr20: 60,747-29,462,103 ISM1-AS1, CST2, 498 more genes
    nsv3921972copy number variation1nstd102humanPathogenic NCBI36 chr20: 18,580-19,074,923 , GRCh38 chr20: 89,939-19,146,279 , GRCh37 chr20: 70,580-19,126,923 PTMAP3, LOC105372517, 331 more genes
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
    nsv3919898copy number variation1nstd102humanPathogenic GRCh37 chr20: 61,568-26,305,479 , GRCh38 chr20: 80,927-26,324,843 , NCBI36 chr20: 9,568-26,253,479 MIR3192, CFAP61, 473 more genes
    nsv3914413copy number variation1nstd102humanPathogenic NCBI36 chr20: 18,580-19,000,139 , GRCh38 chr20: 89,939-19,071,495 , GRCh37 chr20: 70,580-19,052,139 ZNF343, C20orf96, 331 more genes
    nsv3914224copy number variation1nstd102humanPathogenic GRCh37 chr20: 17,753,416-21,407,427 , NCBI36 chr20: 17,701,416-21,355,427 , GRCh38 chr20: 17,772,771-21,426,789 LOC107985440, RN7SL690P, 73 more genes
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