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Items: 1 to 20 of 5611

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv6121656copy number variation1nstd186human GRCh37 chr13: 96,633,436-96,633,740 , GRCh38.p12 chr13: 95,981,182-95,981,486 UGGT2
    nsv6116795mobile element insertion1nstd186human GRCh37 chr5: 10,422,827-10,422,827 , GRCh38.p12 chr5: 10,422,715-10,422,715 MARCHF6
    nsv6115534mobile element insertion1nstd186human GRCh37 chr13: 96,514,080-96,514,131 , GRCh38.p12 chr13: 95,861,826-95,861,877 UGGT2
    nsv6112759copy number variation1nstd102humanPathogenic GRCh37 chr3: 60,001-8,472,742 , GRCh38.p12 chr3: 18,324-8,431,056 LOC105376926, LOC107986057, 69 more genes
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5979425insertion1nstd209human GRCh38 chr13: 95,924,393-95,924,393 , GRCh37.p13 chr13: 96,576,647-96,576,647 UGGT2
    nsv5978883inversion1nstd209human GRCh38 chr8: 124,481,433-124,485,057 , GRCh37.p13 chr8: 125,493,674-125,497,298 RNF139
    nsv5975953insertion1nstd209human GRCh38 chr12: 57,697,890-57,697,890 , GRCh37.p13 chr12: 58,091,673-58,091,673 OS9
    nsv5974799inversion1nstd209human GRCh38 chr19: 12,342,936-19,691,231 , GRCh37.p13 chr19: 12,453,750-19,802,040 , GET3, 322 more genes
    nsv5974534inversion1nstd209human GRCh38 chr17: 15,750,079-18,634,890 , GRCh37.p13 chr17: 15,653,393-18,538,203 , ADORA2B, 119 more genes
    nsv5968689insertion1nstd209human GRCh38 chr16: 56,406,552-56,406,552 , GRCh37.p13 chr16: 56,440,464-56,440,464 AMFR
    nsv5968604inversion1nstd209human GRCh38 chr2: 49,436,021-59,087,697 , GRCh37.p13 chr2: 49,663,159-59,314,832 , ACYP2, 95 more genes
    nsv5960587insertion1nstd209human GRCh38 chr5: 179,695,492-179,695,492 , GRCh37.p13 chr5: 179,122,493-179,122,493 CANX
    nsv5958460insertion1nstd209human GRCh38 chr5: 179,710,707-179,710,707 , GRCh37.p13 chr5: 179,137,708-179,137,708 CANX
    nsv5950828insertion1nstd209human GRCh38 chr5: 10,422,719-10,422,719 , GRCh37.p13 chr5: 10,422,831-10,422,831 MARCHF6
    nsv5949387copy number variation1nstd209human GRCh38 chr20: 35,128,254-35,129,000 , GRCh37.p13 chr20: 33,716,057-33,716,803 EDEM2, MMP24-AS1-EDEM2
    nsv5945891copy number variation1nstd209human GRCh38 chr17: 15,750,946-16,668,217 , GRCh37.p13 chr17: 15,654,260-16,571,531 ADORA2B, MIR1288, 34 more genes
    nsv5943631copy number variation1nstd209human GRCh38 chr17: 15,758,933-16,863,323 , GRCh37.p13 chr17: 15,662,247-16,766,637 , MIR1288, 50 more genes
    nsv5943476copy number variation1nstd209human GRCh38 chr13: 95,820,667-95,820,758 , GRCh37.p13 chr13: 96,472,921-96,473,012 UGGT2
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