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Items: 1 to 20 of 105

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5727500mobile element insertion1nstd211human GRCh38 chr20: 16,749,574-16,749,574 , GRCh37.p13 chr20: 16,730,219-16,730,219 OTOR
    nsv5530660copy number variation1nstd206human GRCh38 chr20: 16,704,017-17,308,202 , GRCh37.p13 chr20: 16,684,662-17,288,847 PCSK2, SNRPB2, 6 more genes
    nsv5192634mobile element insertion1nstd203human GRCh38 chr20: 16,749,562-16,749,574 , GRCh37.p13 chr20: 16,730,207-16,730,219 OTOR
    nsv5167623mobile element insertion1nstd203human GRCh38 chr20: 16,751,820-16,751,832 , GRCh37.p13 chr20: 16,732,465-16,732,477 OTOR
    nsv5025168copy number variation1nstd200human GRCh38 chr20: 16,751,009-17,002,129 , GRCh37.p13 chr20: 16,731,654-16,982,774 OTOR
    nsv5025167copy number variation1nstd200human GRCh38 chr20: 16,704,017-17,308,202 , GRCh37.p13 chr20: 16,684,662-17,288,847 LOC105372544, RNU6-27P, 6 more genes
    nsv4865459copy number variation1nstd200human GRCh37 chr20: 16,684,662-17,288,847 , GRCh38.p12 chr20: 16,704,017-17,308,202 LOC105372545, LOC105372544, 6 more genes
    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
    nsv4676401copy number variation1nstd102humanUncertain significance GRCh37 chr20: 15,872,280-16,764,799 , GRCh38.p12 chr20: 15,891,635-16,784,154 RPL7AP13, LOC105372542, 8 more genes
    nsv4565785mobile element insertion1nstd166human GRCh37.p13 chr20: 16,730,207-16,730,207 , GRCh38.p12 chr20: 16,749,562-16,749,562 OTOR
    nsv4457540copy number variation1nstd102humanUncertain significance GRCh37 chr20: 16,688,627-17,288,943 , GRCh38.p12 chr20: 16,707,982-17,308,298 SNRPB2, OTOR, 6 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
    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
    nsv3918390copy number variation1nstd102humanUncertain significance GRCh38 chr20: 16,704,727-17,303,136 , GRCh37 chr20: 16,685,372-17,283,781 , NCBI36 chr20: 16,633,372-17,231,781 PCSK2, LOC105372544, 6 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
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