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Items: 1 to 20 of 154

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5975575insertion1nstd209human GRCh38 chr16: 19,077,590-19,077,590 , GRCh37.p13 chr16: 19,088,912-19,088,912 COQ7
    nsv5967951inversion1nstd209human GRCh38 chr16: 13,469,401-22,726,308 , GRCh37.p13 chr16: 13,563,258-22,737,629 , ABCC6, 214 more genes
    nsv5524025copy number variation1nstd206human GRCh38 chr16: 18,936,669-19,071,022 , GRCh37.p13 chr16: 18,947,991-19,082,344 COQ7-DT, SMG1-DT, 3 more genes
    nsv5365536translocation1nstd200human GRCh38 chr16: 19,080,079-19,080,079 , GRCh38 chr16: 19,083,558-19,083,558 , GRCh37.p13 chr16: 19,091,401-19,091,401 , GRCh37.p13 chr16: 19,094,880-19,094,880 COQ7
    nsv5003050copy number variation1nstd200human GRCh38 chr16: 19,064,940-19,065,873 , GRCh37.p13 chr16: 19,076,262-19,077,195 COQ7, COQ7-DT
    nsv5003048copy number variation1nstd200human GRCh38 chr16: 19,050,378-19,258,566 , GRCh37.p13 chr16: 19,061,700-19,269,888 COQ7, SYT17, 4 more genes
    nsv4994520copy number variation1nstd200human GRCh38 chr16: 19,006,719-19,115,877 , GRCh37.p13 chr16: 19,018,041-19,127,199 COQ7, COQ7-DT, 3 more genes
    nsv4994517copy number variation1nstd200human GRCh38 chr16: 18,893,545-19,249,819 , GRCh37.p13 chr16: 18,904,867-19,261,141 COQ7, TMC7, 7 more genes
    nsv4729901copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,959,279-30,190,593 , GRCh38.p12 chr16: 2,909,278-30,179,272 NPIPB9, TMEM219, 597 more genes
    nsv4685985copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,805,001-34,230,001 , GRCh38.p12 chr16: 5,755,000-34,995,630 LOC105371069, PKD1P6-NPIPP1, 654 more genes
    nsv4625512copy number variation1nstd183human GRCh37 chr16: 18,761,093-19,184,060 , GRCh38.p12 chr16: 18,749,771-19,172,738 COQ7-DT, SMG1-DT, 9 more genes
    nsv4620204copy number variation1nstd183human GRCh37 chr16: 18,936,121-19,128,775 , GRCh38.p12 chr16: 18,924,799-19,117,453 COQ7, SMG1, 5 more genes
    nsv4619219copy number variation1nstd183human GRCh37 chr16: 19,080,496-19,096,512 , GRCh38.p12 chr16: 19,069,174-19,085,190 COQ7
    nsv4567029sequence alteration1nstd166human GRCh37.p13 chr16: 19,052,809-19,081,279 , GRCh38.p12 chr16: 19,041,487-19,069,957 COQ7, TMC7, 1 more genes
    nsv4531286copy number variation1nstd166human GRCh37.p13 chr16: 19,091,401-19,099,838 , GRCh38.p12 chr16: 19,080,079-19,088,516 COQ7
    nsv4436312complex substitution1nstd102humanPathogenic GRCh38.p12 chr16: 1,230,041-33,908,091 , GRCh37 chr16: 1,280,042-33,710,558 ABAT, ABCA3, 876 more genes
    nsv4420542copy number variation1nstd174human GRCh37 chr16: 18,770,811-19,256,995 , GRCh38.p12 chr16: 18,759,489-19,245,673 SMG1, SYT17, 10 more genes
    nsv4385397copy number variation1nstd173human GRCh37 chr16: 18,881,994-19,119,700 , GRCh38.p12 chr16: 18,870,672-19,108,378 COQ7, TMC7, 5 more genes
    nsv4338291sequence alteration1nstd166human GRCh37.p13 chr16: 19,091,401-19,099,838 , GRCh38.p12 chr16: 19,080,079-19,088,516 COQ7
    nsv4322553inversion1nstd166human GRCh37.p13 chr16: 16,634,964-31,736,102 , GRCh38.p12 chr16: 16,541,107-31,724,781 , ALDOA, 403 more genes
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