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Items: 1 to 20 of 8132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6131344insertion1nstd186human GRCh37 chr19: 10,293,797-10,293,801 , GRCh38.p12 chr19: 10,183,121-10,183,125 DNMT1
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6116630mobile element insertion1nstd186human GRCh37 chr20: 32,831,297-32,831,348 , GRCh38.p12 chr20: 34,243,491-34,243,542 ASIP, AHCY
    nsv6112768copy number variation1nstd102humanPathogenic GRCh37 chr5: 34,984,696-46,405,042 , GRCh38.p12 chr5: 34,984,591-46,404,940 LIFR-AS1, FGF10-AS1, 137 more genes
    nsv6112750copy number variation1nstd102humanPathogenic GRCh37 chr2: 81,209,244-86,688,030 , GRCh38.p12 chr2: 80,982,120-86,460,907 VAMP8, TMSB10, 86 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
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 LOC105373207, LOC105373210, 113 more genes
    nsv5980227insertion1nstd209human GRCh38 chr12: 24,887,081-24,887,081 , GRCh37.p13 chr12: 25,040,015-25,040,015 BCAT1
    nsv5978979insertion1nstd209human GRCh38 chr20: 34,950,020-34,950,020 , GRCh37.p13 chr20: 33,537,823-33,537,823 GSS
    nsv5978005insertion1nstd209human GRCh38 chr11: 18,401,955-18,401,955 , GRCh37.p13 chr11: 18,423,502-18,423,502 LDHA
    nsv5977028insertion1nstd209human GRCh38 chr12: 24,837,146-24,837,146 , GRCh37.p13 chr12: 24,990,080-24,990,080 BCAT1
    nsv5976620insertion1nstd209human GRCh38 chr20: 34,235,913-34,235,913 , GRCh37.p13 chr20: 32,823,719-32,823,719 AHCY, ASIP
    nsv5975124inversion1nstd209human GRCh38 chr5: 35,039,806-35,040,929 , GRCh37.p13 chr5: 35,039,911-35,041,034 AGXT2
    nsv5974799inversion1nstd209human GRCh38 chr19: 12,342,936-19,691,231 , GRCh37.p13 chr19: 12,453,750-19,802,040 , GET3, 322 more genes
    nsv5974464inversion1nstd209human GRCh38 chr19: 49,769,209-52,432,690 , GRCh37.p13 chr19: 50,272,466-52,935,943 , AP2A1, 172 more genes
    nsv5971822insertion1nstd209human GRCh38 chr11: 18,401,457-18,401,457 , GRCh37.p13 chr11: 18,423,004-18,423,004 LDHA
    nsv5971485insertion1nstd209human GRCh38 chr11: 18,464,986-18,464,986 , GRCh37.p13 chr11: 18,486,533-18,486,533 LDHAL6A
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