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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5510554copy number variation1nstd206human GRCh38 chr14: 73,954,690-73,956,075 , GRCh37.p13 chr14: 74,421,393-74,422,778 ENTPD5, COQ6
    nsv5510060copy number variation1nstd206human GRCh38 chr14: 73,955,232-73,957,299 , GRCh37.p13 chr14: 74,421,935-74,424,002 COQ6, ENTPD5
    nsv5504829copy number variation1nstd206human GRCh38 chr14: 73,949,384-73,951,523 , GRCh37.p13 chr14: 74,416,087-74,418,226 COQ6, FAM161B
    nsv5278032copy number variation1nstd204human GRCh38.p13 chr14: 73,961,701-74,069,000 , GRCh37.p13 chr14: 74,428,404-74,535,703 RPL41P4, ENTPD5, 3 more genes
    nsv5143342mobile element insertion1nstd203human GRCh38 chr14: 73,954,494-73,954,503 , GRCh37.p13 chr14: 74,421,197-74,421,206 COQ6
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5004789copy number variation1nstd200human GRCh38 chr14: 73,949,486-73,951,632 , GRCh37.p13 chr14: 74,416,189-74,418,335 COQ6, FAM161B
    nsv5004788copy number variation1nstd200human GRCh38 chr14: 73,948,251-73,982,556 , GRCh37.p13 chr14: 74,414,954-74,449,259 COQ6, ENTPD5, 1 more genes
    nsv5000029copy number variation1nstd200human GRCh38 chr14: 73,956,129-74,033,597 , GRCh37.p13 chr14: 74,422,832-74,500,300 RPL41P4, COQ6, 2 more genes
    nsv5000028copy number variation1nstd200human GRCh38 chr14: 73,954,823-73,960,234 , GRCh37.p13 chr14: 74,421,526-74,426,937 COQ6, ENTPD5
    nsv5000027copy number variation1nstd200human GRCh38 chr14: 73,954,642-73,956,043 , GRCh37.p13 chr14: 74,421,345-74,422,746 COQ6, ENTPD5
    nsv4842406copy number variation1nstd200human GRCh37 chr14: 74,421,345-74,422,746 , GRCh38.p12 chr14: 73,954,642-73,956,043 ENTPD5, COQ6
    nsv4832791copy number variation1nstd200human GRCh37 chr14: 74,421,554-74,426,908 , GRCh38.p12 chr14: 73,954,851-73,960,205 ENTPD5, COQ6
    nsv4831347copy number variation1nstd200human GRCh37 chr14: 74,414,954-74,449,259 , GRCh38.p12 chr14: 73,948,251-73,982,556 FAM161B, COQ6, 1 more genes
    nsv4625674copy number variation1nstd183human GRCh37 chr14: 74,391,363-74,627,713 , GRCh38.p12 chr14: 73,924,660-74,161,010 RNY4P21, ZNF410, 8 more genes
    nsv4623913copy number variation1nstd183human GRCh37 chr14: 74,420,440-74,442,857 , GRCh38.p12 chr14: 73,953,737-73,976,154 COQ6, ENTPD5
    nsv4451120copy number variation1nstd102humanUncertain significance GRCh38 chr14: 73,645,020-74,260,939 , GRCh37 chr14: 74,111,723-74,727,642 ENTPD5, COQ6, 20 more genes
    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
    nsv4230916copy number variation1nstd166human GRCh37.p13 chr14: 74,416,087-74,418,226 , GRCh38.p12 chr14: 73,949,384-73,951,523 COQ6, FAM161B
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