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Items: 1 to 20 of 612

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098889copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,064,059-59,314,016 , GRCh38.p12 chr12: 56,670,275-58,920,235 CDK4, CYP27B1, 77 more genes
    nsv7093976copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,534,470-58,190,366 , GRCh38.p12 chr12: 57,140,687-57,796,583 KIF5A, AGAP2-AS1, 37 more genes
    nsv7074641inversion1nstd229human GRCh38 chr12: 52,659,002-59,632,575 , GRCh37.p13 chr12: 53,052,786-60,026,356 , LOC105369777, 292 more genes
    nsv7071931inversion1nstd229human GRCh38 chr12: 55,156,710-64,781,897 , GRCh37.p13 chr12: 55,550,494-65,175,677 ZBTB39, MIR548Z, 236 more genes
    nsv7068987inversion1nstd229human GRCh38 chr12: 56,649,721-58,539,946 , GRCh37.p13 chr12: 57,043,505-58,933,729 GIHCG, LOC101927608, 72 more genes
    nsv6936690copy number variation1nstd229human GRCh38 chr12: 57,331,688-57,349,987 , GRCh37.p13 chr12: 57,725,471-57,743,770 R3HDM2
    nsv6935847copy number variation1nstd229human GRCh38 chr12: 57,353,111-57,355,196 , GRCh37.p13 chr12: 57,746,894-57,748,979 R3HDM2
    nsv6935794copy number variation1nstd229human GRCh38 chr12: 57,253,860-57,256,986 , GRCh37.p13 chr12: 57,647,643-57,650,769 R3HDM2
    nsv6934799copy number variation1nstd229human GRCh38 chr12: 57,327,985-57,333,162 , GRCh37.p13 chr12: 57,721,768-57,726,945 R3HDM2
    nsv6933507copy number variation1nstd229human GRCh38 chr12: 57,327,993-57,330,846 , GRCh37.p13 chr12: 57,721,776-57,724,629 R3HDM2
    nsv6933297copy number variation1nstd229human GRCh38 chr12: 57,414,401-57,814,000 , GRCh37.p13 chr12: 57,808,184-58,207,783 MIR6759, INHBE, 31 more genes
    nsv6932286copy number variation1nstd229human GRCh38 chr12: 57,375,880-57,375,975 , GRCh37.p13 chr12: 57,769,663-57,769,758 R3HDM2
    nsv6929317copy number variation1nstd229human GRCh38 chr12: 57,357,661-57,384,592 , GRCh37.p13 chr12: 57,751,444-57,778,375 R3HDM2
    nsv6926596copy number variation1nstd229human GRCh38 chr12: 57,392,026-57,409,314 , GRCh37.p13 chr12: 57,785,809-57,803,097 R3HDM2
    nsv6923102copy number variation1nstd229human GRCh38 chr12: 57,328,798-57,330,982 , GRCh37.p13 chr12: 57,722,581-57,724,765 R3HDM2
    nsv6920461copy number variation1nstd229human GRCh38 chr12: 57,260,430-57,264,442 , GRCh37.p13 chr12: 57,654,213-57,658,225 R3HDM2
    nsv6919331copy number variation1nstd229human GRCh38 chr12: 57,394,497-57,403,639 , GRCh37.p13 chr12: 57,788,280-57,797,422 R3HDM2
    nsv6637645copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,631,073-58,236,597 , GRCh38.p12 chr12: 57,237,290-57,842,814 CDK4, CYP27B1, 36 more genes
    nsv6595407inversion1nstd223human GRCh38 chr12: 57,313,912-57,314,982 , GRCh37.p13 chr12: 57,707,695-57,708,765 R3HDM2
    nsv6595151inversion1nstd223human GRCh38 chr12: 56,690,071-66,057,684 , GRCh37.p13 chr12: 57,083,855-66,451,464 HMGA2-AS1, HSD17B6, 166 more genes
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