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Items: 1 to 20 of 344

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099254copy number variation1nstd231human GRCh38.p12 chr1: 182,376,401-191,898,122 , GRCh37 chr1: 182,345,536-191,867,252 DHX9, GLUL, 99 more genes
    nsv7053326inversion1nstd229human GRCh38 chr1: 183,856,809-187,909,288 , GRCh37.p13 chr1: 183,825,943-187,878,419 RGL1, TPR, 49 more genes
    nsv7051771inversion1nstd229human GRCh38 chr1: 184,006,316-184,007,610 , GRCh37.p13 chr1: 183,975,450-183,976,744 COLGALT2
    nsv7049489inversion1nstd229human GRCh38 chr1: 184,002,209-184,006,735 , GRCh37.p13 chr1: 183,971,343-183,975,869 COLGALT2
    nsv7042094inversion1nstd229human GRCh38 chr1: 183,956,001-183,957,049 , GRCh37.p13 chr1: 183,925,135-183,926,183 COLGALT2
    nsv6646065copy number variation1nstd229human GRCh38 chr1: 184,002,201-184,007,600 , GRCh37.p13 chr1: 183,971,335-183,976,734 COLGALT2
    nsv6646064copy number variation1nstd229human GRCh38 chr1: 183,994,061-183,994,443 , GRCh37.p13 chr1: 183,963,195-183,963,577 COLGALT2
    nsv6646063copy number variation1nstd229human GRCh38 chr1: 183,957,508-183,960,274 , GRCh37.p13 chr1: 183,926,642-183,929,408 COLGALT2
    nsv6646002copy number variation1nstd229human GRCh38 chr1: 184,031,352-184,036,417 , GRCh37.p13 chr1: 184,000,486-184,005,551 COLGALT2
    nsv6646001copy number variation1nstd229human GRCh38 chr1: 183,947,979-184,225,010 , GRCh37.p13 chr1: 183,917,113-184,194,144 COLGALT2, TSEN15, 1 more genes
    nsv6645999copy number variation1nstd229human GRCh38 chr1: 183,868,620-184,193,526 , GRCh37.p13 chr1: 183,837,754-184,162,660 TSEN15, RGL1, 2 more genes
    nsv6645931copy number variation1nstd229human GRCh38 chr1: 183,971,601-183,986,400 , GRCh37.p13 chr1: 183,940,735-183,955,534 COLGALT2
    nsv6645561copy number variation1nstd229human GRCh38 chr1: 183,873,301-183,948,400 , GRCh37.p13 chr1: 183,842,435-183,917,534 COLGALT2, RGL1
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6548934inversion1nstd223human GRCh38 chr1: 183,856,809-187,909,292 , GRCh37.p13 chr1: 183,825,943-187,878,423 LOC105371649, LINC01633, 49 more genes
    nsv6542338inversion1nstd223human GRCh38 chr1: 184,002,209-184,006,737 , GRCh37.p13 chr1: 183,971,343-183,975,871 COLGALT2
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6537947inversion1nstd223human GRCh38 chr1: 183,956,001-183,957,049 , GRCh37.p13 chr1: 183,925,135-183,926,183 COLGALT2
    nsv6335174copy number variation1nstd223human GRCh38 chr1: 184,002,201-184,007,600 , GRCh37.p13 chr1: 183,971,335-183,976,734 COLGALT2
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