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Items: 1 to 20 of 6779

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130699insertion1nstd186human GRCh37 chr14: 62,229,173-62,229,189 , GRCh38.p12 chr14: 61,762,455-61,762,471 SNAPC1
    nsv6114519mobile element insertion1nstd186human GRCh37 chr12: 106,890,946-106,890,946 , GRCh38.p12 chr12: 106,497,168-106,497,168 LOC100287944, POLR3B
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv5980457copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 21,936,726-22,461,225 , GRCh38.p12 chr16: 21,925,405-22,449,904 , GRCh38.p12 chr16|NW_017852933.1: 655,131-1,179,634 CDR2, UQCRC2, 16 more genes
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5976331insertion1nstd209human GRCh38 chr12: 106,497,168-106,497,168 , GRCh37.p13 chr12: 106,890,946-106,890,946 POLR3B, LOC100287944
    nsv5975308insertion1nstd209human GRCh38 chr12: 106,479,822-106,479,822 , GRCh37.p13 chr12: 106,873,600-106,873,600 POLR3B
    nsv5974725insertion1nstd209human GRCh38 chr16: 22,303,639-22,303,639 , GRCh37.p13 chr16: 22,314,960-22,314,960 POLR3E
    nsv5972693insertion1nstd209human GRCh38 chr11: 9,486,371-9,486,371 , GRCh37.p13 chr11: 9,507,918-9,507,918 ZNF143
    nsv5972391inversion1nstd209human GRCh38 chr14: 61,789,531-61,790,759 , GRCh37.p13 chr14: 62,256,249-62,257,477 SNAPC1
    nsv5971279inversion1nstd209human GRCh38 chr16: 21,590,269-22,770,846 , GRCh37.p13 chr16: 21,601,590-22,782,167 CDR2, UQCRC2, 31 more genes
    nsv5968038insertion1nstd209human GRCh38 chr14: 61,762,420-61,762,420 , GRCh37.p13 chr14: 62,229,138-62,229,138 SNAPC1
    nsv5967951inversion1nstd209human GRCh38 chr16: 13,469,401-22,726,308 , GRCh37.p13 chr16: 13,563,258-22,737,629 , ABCC6, 214 more genes
    nsv5960887insertion1nstd209human GRCh38 chr6: 170,568,765-170,568,765 , GRCh37.p13 chr6: 170,877,853-170,877,853 TBP
    nsv5960651insertion1nstd209human GRCh38 chr7: 66,151,713-66,151,713 , GRCh37.p13 chr7: 65,616,700-65,616,700 CRCP
    nsv5958642insertion1nstd209human GRCh38 chr1: 167,250,996-167,250,996 , GRCh37.p13 chr1: 167,220,233-167,220,233 POU2F1
    nsv5957853copy number variation1nstd209human GRCh38 chr22: 37,999,387-37,999,460 , GRCh37.p13 chr22: 38,395,394-38,395,467 POLR2F
    nsv5957731insertion1nstd209human GRCh38 chr1: 145,842,809-145,842,809 , GRCh37.p13 chr1|NW_003871055.3: 2,658,222-2,658,222 , GRCh37.p13 chr1: 145,592,301-145,592,301 POLR3C
    nsv5955311insertion1nstd209human GRCh38 chr9: 136,387,903-136,387,903 , GRCh37.p13 chr9: 139,282,355-139,282,355 SNAPC4
    nsv5953463copy number variation1nstd209human GRCh38 chr22: 37,960,945-37,962,786 , GRCh37.p13 chr22: 38,356,952-38,358,793 POLR2F
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