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Items: 1 to 20 of 127

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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
    nsv5273048copy number variation1nstd204human GRCh38.p13 chr16: 18,763,201-18,782,300 , GRCh37.p13 chr16: 18,774,523-18,793,622 RPS15A
    nsv5271054copy number variation1nstd204human GRCh38.p13 chr16: 18,704,901-18,782,200 , GRCh37.p13 chr16: 18,716,223-18,793,522 RPS15A
    nsv5260976copy number variation1nstd204human GRCh38.p13 chr16: 18,763,645-18,782,340 , GRCh37.p13 chr16: 18,774,967-18,793,662 RPS15A
    nsv4994515copy number variation1nstd200human GRCh38 chr16: 18,784,377-18,799,306 , GRCh37.p13 chr16: 18,795,699-18,810,628 RPS15A, ARL6IP1
    nsv4994513copy number variation1nstd200human GRCh38 chr16: 18,581,483-18,803,775 , GRCh37.p13 chr16: 18,592,805-18,815,097 SMG1, ABCC6P1, 2 more genes
    nsv4730208inversion9nstd198human GRCh38 chr16: 16,118,120-18,828,979 , GRCh37.p13 chr16: 16,211,977-18,840,301 , ABCC6, 48 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
    nsv4633068copy number variation2nstd183human GRCh37 chr16: 18,521,068-18,792,396 , GRCh38.p12 chr16: 18,427,211-18,781,074 RPS15A, NOMO2, 5 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
    nsv4624868copy number variation1nstd183human GRCh37 chr16: 18,761,093-18,792,710 , GRCh38.p12 chr16: 18,749,771-18,781,388 RPS15A
    nsv4532660copy number variation1nstd166human GRCh37.p13 chr16: 18,735,999-18,892,000 , GRCh38.p12 chr16: 18,724,677-18,880,678 SMG1, LOC100996247, 2 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
    nsv4427121copy number variation1nstd174human GRCh37 chr16: 18,238,276-18,792,698 , GRCh38.p12 chr16: 18,144,419-18,781,376 , PKD1P4-NPIPA8, 20 more genes
    nsv4422061copy number variation1nstd174human GRCh37 chr16: 18,658,775-18,831,907 , GRCh38.p12 chr16: 18,647,453-18,820,585 RPS15A, SMG1, 1 more genes
    nsv4421902copy number variation1nstd174human GRCh37 chr16: 18,551,587-18,791,852 , GRCh38.p12 chr16: 18,540,265-18,780,530 NOMO2, ABCC6P1, 1 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
    nsv4417193copy number variation1nstd174human GRCh37 chr16: 18,551,587-18,791,852 , GRCh38.p12 chr16: 18,540,265-18,780,530 ABCC6P1, RPS15A, 1 more genes
    nsv4374915copy number variation3nstd173human GRCh37 chr16: 18,238,276-18,792,710 , GRCh38.p12 chr16: 18,144,419-18,781,388 , NPIPA9, 20 more genes
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