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Items: 1 to 20 of 109

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6975605copy number variation1nstd229human GRCh38 chr14: 74,911,162-74,913,731 , GRCh37.p13 chr14: 75,377,865-75,380,434 RPS6KL1
    nsv6637489copy number variation1nstd102humanUncertain significance GRCh37 chr14: 75,353,951-75,424,406 , GRCh38.p12 chr14: 74,887,248-74,957,703 PGF, RPS6KL1, 2 more genes
    nsv6485293copy number variation1nstd223human GRCh38 chr14: 74,911,162-74,913,729 , GRCh37.p13 chr14: 75,377,865-75,380,432 RPS6KL1
    nsv6315524copy number variation1nstd102humanPathogenic GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013 PAPOLA-DT, LOC105378180, 1338 more genes
    nsv6241528mobile element insertion1nstd215human GRCh38 chr14: 74,916,858-74,916,858 , GRCh37.p13 chr14: 75,383,561-75,383,561 RPS6KL1
    nsv6132854copy number variation1nstd213human GRCh37 chr14: 75,379,143-75,516,396 , GRCh38.p12 chr14: 74,912,440-75,049,693 PGF, EIF2B2, 4 more genes
    nsv6132792copy number variation1nstd213human GRCh37 chr14: 74,650,000-75,390,001 , GRCh38.p12 chr14: 74,183,297-74,923,298 AREL1, NPC2, 23 more genes
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5000079copy number variation1nstd200human GRCh38 chr14: 74,911,162-74,913,729 , GRCh37.p13 chr14: 75,377,865-75,380,432 RPS6KL1
    nsv5000078copy number variation1nstd200human GRCh38 chr14: 74,905,223-74,906,600 , GRCh37.p13 chr14: 75,371,926-75,373,303 RPS6KL1
    nsv4836488copy number variation1nstd200human GRCh37 chr14: 75,377,865-75,380,432 , GRCh38.p12 chr14: 74,911,162-74,913,729 RPS6KL1
    nsv4680089copy number variation1nstd189human GRCh37.p13 chr14: 74,684,102-75,401,772 , GRCh38.p12 chr14: 74,217,399-74,935,069 DLST, LTBP2, 21 more genes
    nsv4675111copy number variation1nstd102humanUncertain significance GRCh37 chr14: 75,205,276-75,507,538 , GRCh38.p12 chr14: 74,738,573-75,040,835 METTL5P1, RNU6-689P, 10 more genes
    nsv4540689insertion1nstd166human GRCh37.p13 chr14: 75,377,406-75,377,406 , GRCh38.p12 chr14: 74,910,703-74,910,703 RPS6KL1
    nsv4349747copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,040,231-76,368,547 , GRCh38.p12 chr14: 73,573,527-75,902,204 ACYP1, ENTPD5, 72 more genes
    nsv4219721copy number variation1nstd166human GRCh37.p13 chr14: 75,377,865-75,380,432 , GRCh38.p12 chr14: 74,911,162-74,913,729 RPS6KL1
    nsv3923727copy number variation1nstd102humanPathogenic GRCh37 chr14: 70,028,816-82,441,728 , GRCh38 chr14: 69,562,099-81,975,384 , NCBI36 chr14: 69,098,569-81,511,481 CEP128, COX6CP11, 240 more genes
    nsv3923448copy number variation1nstd102humanPathogenic NCBI36 chr14: 73,413,528-77,578,518 , GRCh38 chr14: 73,877,072-78,042,422 , GRCh37 chr14: 74,343,775-78,508,765 ZC2HC1C, RPL21P10, 113 more genes
    nsv3922094copy number variation1nstd102humanPathogenic GRCh38 chr14: 73,655,772-106,879,298 , GRCh37 chr14: 74,122,475-107,287,505 , NCBI36 chr14: 73,192,228-106,358,550 LOC105370614, LOC105370617, 849 more genes
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