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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094434copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,270,959-57,274,875 , GRCh38.p12 chr14: 56,804,241-56,808,157 OTX2
    nsv7060471inversion1nstd229human GRCh38 chr14: 54,671,401-63,742,041 , GRCh37.p13 chr14: 55,138,119-64,208,759 KTN1, OTX2-AS1, 153 more genes
    nsv6949862copy number variation1nstd229human GRCh38 chr14: 51,123,112-56,995,885 , GRCh37.p13 chr14: 51,589,830-57,462,603 RPL3P3, RNA5SP385, 96 more genes
    nsv6594267inversion1nstd223human GRCh38 chr14: 54,883,431-63,921,497 , GRCh37.p13 chr14: 55,350,149-64,388,215 RPL36AP1, GNRHR2P1, 152 more genes
    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
    nsv6314024copy number variation1nstd102humanUncertain significance GRCh37 chr14: 56,226,305-57,784,632 , GRCh38.p12 chr14: 55,759,587-57,317,914 AP5M1, LOC102723670, 17 more genes
    nsv6309550copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr14: 57,268,453-57,272,174 , GRCh38.p12 chr14: 56,801,735-56,805,456 OTX2
    nsv6291495copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,126,229-57,336,190 , GRCh38.p12 chr14: 56,659,511-56,869,472 OTX2, TMEM260, 4 more genes
    nsv6132789copy number variation1nstd213human GRCh37 chr14: 56,650,000-58,500,001 , GRCh38.p12 chr14: 56,183,282-58,033,283 TMEM260, CCDC198, 19 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
    nsv5938835copy number variation1nstd209human GRCh38 chr14: 50,842,894-59,394,609 , GRCh37.p13 chr14: 51,309,612-59,861,327 , TMX1, 148 more genes
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4675883copy number variation1nstd102humanPathogenic GRCh37 chr14: 55,615,073-58,043,694 , GRCh38.p12 chr14: 55,148,355-57,576,976 FBXO34-AS1, FBXO34, 39 more genes
    nsv4675249copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,130,786-57,577,796 , GRCh38.p12 chr14: 56,664,068-57,111,078 OTX2, LOC440180, 5 more genes
    nsv4674918copy number variation1nstd102humanPathogenic GRCh37 chr14: 56,605,398-59,404,256 , GRCh38.p12 chr14: 56,138,680-58,937,538 RNU6-1204P, LOC440180, 42 more genes
    nsv4450789copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 57,268,433-57,269,093 , GRCh38 chr14: 56,801,715-56,802,375 OTX2
    nsv4449989copy number variation1nstd102humanPathogenic GRCh38 chr14: 56,801,715-56,804,383 , GRCh37 chr14: 57,268,433-57,271,101 OTX2
    nsv3919106copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482 SRMP2, IGHV3-71, 1929 more genes
    nsv3917422copy number variation1nstd102humanPathogenic GRCh38 chr14: 20,151,149-106,855,263 , NCBI36 chr14: 19,689,148-106,334,523 , GRCh37 chr14: 20,619,308-107,263,478 MIR656, TRAJ59, 1918 more genes
    nsv3915480copy number variation1nstd102humanLikely benign NCBI36 chr14: 55,881,671-56,453,741 , GRCh37 chr14: 56,811,918-57,383,988 , GRCh38 chr14: 56,345,200-56,917,270 TMEM260, LOC101927690, 6 more genes
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