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Items: 1 to 20 of 934

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7140406copy number variation1nstd232human GRCh37.p13 chr11: 2,814,636-2,814,706 , GRCh38.p12 chr11: 2,793,406-2,793,476 , GRCh38.p12 chr11|NT_187585.1: 25,593-25,663 KCNQ1
    nsv7137194copy number variation1nstd102humanUncertain significance GRCh37 chr11: 2,591,962-2,592,028 , GRCh38 chr11: 2,570,732-2,570,798 KCNQ1
    nsv7137183copy number variation1nstd102humanPathogenic GRCh37 chr11: 2,683,186-2,683,314 , GRCh38.p12 chr11: 2,661,956-2,662,084 KCNQ1OT1, KCNQ1
    nsv7094186copy number variation1nstd102humanUncertain significance GRCh37 chr11: 721,044-3,988,932 , GRCh38.p12 chr11: 721,044-3,967,702 OR7E117P, RPLP2, 124 more genes
    nsv7094163copy number variation1nstd102humanUncertain significance GRCh37 chr11: 2,549,148-2,683,321 , GRCh38.p12 chr11: 2,527,918-2,662,091 KCNQ1OT1, KCNQ1
    nsv7093846copy number variation1nstd102humanLikely pathogenic GRCh37 chr11: 2,629,548-2,721,238 , GRCh38.p12 chr11: 2,608,318-2,700,008 KCNQ1, KCNQ1OT1
    nsv7093845copy number variation1nstd102humanPathogenic GRCh37 chr11: 2,466,329-2,869,233 , GRCh38.p12 chr11: 2,445,099-2,848,003 COX6CP18, KCNQ1, 2 more genes
    nsv7093844copy number variation1nstd102humanPathogenic GRCh37 chr11: 2,466,329-2,466,734 , GRCh38.p12 chr11: 2,445,099-2,445,504 KCNQ1
    nsv7093767copy number variation1nstd102humanPathogenic GRCh37 chr11: 2,799,186-2,799,287 , GRCh38.p12 chr11: 2,777,956-2,778,057 , GRCh38.p12 chr11|NT_187585.1: 10,143-10,244 KCNQ1
    nsv7093766copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr11: 2,591,838-2,610,104 , GRCh38.p12 chr11: 2,570,608-2,588,874 KCNQ1
    nsv7093761copy number variation1nstd102humanUncertain significance GRCh37 chr11: 1,278,740-2,906,719 , GRCh38.p12 chr11: 1,257,510-2,885,489 TOLLIP-DT, KRTAP5-6, 58 more genes
    nsv7093681copy number variation1nstd102humanLikely pathogenic GRCh37 chr11: 2,549,138-2,610,104 , GRCh38.p12 chr11: 2,527,908-2,588,874 KCNQ1
    nsv7076139inversion1nstd229human GRCh38 chr11: 2,504,107-2,551,388 , GRCh37.p13 chr11: 2,525,337-2,572,618 KCNQ1
    nsv7072778inversion1nstd229human GRCh38 chr11: 2,602,398-2,613,291 , GRCh37.p13 chr11: 2,623,628-2,634,521 KCNQ1OT1, KCNQ1
    nsv7069793inversion1nstd229human GRCh38 chr11: 2,807,395-2,807,470 , GRCh37.p13 chr11: 2,828,625-2,828,700 KCNQ1
    nsv6917856copy number variation1nstd229human GRCh38 chr11: 2,676,689-2,679,666 , GRCh37.p13 chr11: 2,697,919-2,700,896 KCNQ1, KCNQ1OT1
    nsv6917303copy number variation1nstd229human GRCh38 chr11: 2,669,525-2,671,124 , GRCh37.p13 chr11: 2,690,755-2,692,354 KCNQ1, KCNQ1OT1
    nsv6917011copy number variation1nstd229human GRCh38 chr11: 2,693,282-9,207,515 , GRCh37.p13 chr11: 2,714,512-9,229,062 LOC105376526, OR51E2, 279 more genes
    nsv6916393copy number variation1nstd229human GRCh38 chr11: 2,839,715-2,849,326 , GRCh37.p13 chr11: 2,860,945-2,870,556 KCNQ1-AS1, KCNQ1
    nsv6915593copy number variation1nstd229human GRCh38 chr11: 2,775,143-2,777,852 , GRCh37.p13 chr11: 2,796,373-2,799,082 KCNQ1
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