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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5967951inversion1nstd209human GRCh38 chr16: 13,469,401-22,726,308 , GRCh37.p13 chr16: 13,563,258-22,737,629 , ABCC6, 214 more genes
    nsv5272803copy number variation1nstd204human GRCh38.p13 chr16: 19,115,850-19,118,468 , GRCh37.p13 chr16: 19,127,172-19,129,790 ITPRIPL2
    nsv5003054copy number variation1nstd200human GRCh38 chr16: 19,109,183-19,112,431 , GRCh37.p13 chr16: 19,120,505-19,123,753 ITPRIPL2
    nsv5003053copy number variation1nstd200human GRCh38 chr16: 19,105,988-19,112,431 , GRCh37.p13 chr16: 19,117,310-19,123,753 ITPRIPL2
    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
    nsv4850640copy number variation1nstd200human GRCh37 chr16: 19,120,505-19,123,753 , GRCh38.p12 chr16: 19,109,183-19,112,431 ITPRIPL2
    nsv4850639copy number variation1nstd200human GRCh37 chr16: 19,117,310-19,123,753 , GRCh38.p12 chr16: 19,105,988-19,112,431 ITPRIPL2
    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
    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
    nsv4379568copy number variation1nstd173human GRCh37 chr16: 19,130,400-19,164,871 , GRCh38.p12 chr16: 19,119,078-19,153,549 ITPRIPL2
    nsv4322553inversion1nstd166human GRCh37.p13 chr16: 16,634,964-31,736,102 , GRCh38.p12 chr16: 16,541,107-31,724,781 , ALDOA, 403 more genes
    nsv4250604copy number variation1nstd166human GRCh37.p13 chr16: 19,124,656-19,124,789 , GRCh38.p12 chr16: 19,113,334-19,113,467 ITPRIPL2
    nsv3919358copy number variation1nstd102humanUncertain significance GRCh38 chr16: 18,759,489-19,293,402 , NCBI36 chr16: 18,678,312-19,212,225 , GRCh37 chr16: 18,770,811-19,304,724 CLEC19A, TMC7, 11 more genes
    nsv3917409copy number variation1nstd102humanPathogenic NCBI36 chr16: 14,956,252-28,225,665 , GRCh37 chr16: 15,048,751-28,318,164 , GRCh38 chr16: 14,954,894-28,306,843 SLC7A5P2, TRL-TAG3-1, 251 more genes
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