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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
    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
    nsv5973749insertion1nstd209human GRCh38 chr14: 74,858,838-74,858,838 , GRCh37.p13 chr14: 75,325,541-75,325,541 PROX2
    nsv5933040copy number variation1nstd209human GRCh38 chr14: 74,858,776-74,858,847 , GRCh37.p13 chr14: 75,325,479-75,325,550 PROX2
    nsv5188290mobile element insertion1nstd203human GRCh38 chr14: 74,857,765-74,857,781 , GRCh37.p13 chr14: 75,324,468-75,324,484 PROX2
    nsv5142239mobile element insertion1nstd203human GRCh38 chr14: 74,855,589-74,855,600 , GRCh37.p13 chr14: 75,322,292-75,322,303 PROX2
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    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
    nsv4575220mobile element insertion1nstd166human GRCh37.p13 chr14: 75,341,555-75,341,555 , GRCh38.p12 chr14: 74,874,852-74,874,852 PROX2
    nsv4529573copy number variation1nstd166human GRCh37.p13 chr14: 75,321,973-75,322,625 , GRCh38.p12 chr14: 74,855,270-74,855,922 PROX2
    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
    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
    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
    nsv3919051copy number variation1nstd102humanLikely pathogenic NCBI36 chr14: 72,879,674-78,371,155 , GRCh37 chr14: 73,809,921-79,301,402 , GRCh38 chr14: 73,343,213-78,835,059 ACYP1, ENTPD5, 137 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
    nsv3907460copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456 BANF1P1, IGHV1-68, 1996 more genes
    nsv3904265copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38.p12 chr14: 20,043,514-106,877,229 CRIP1, GPATCH2L, 1929 more genes
    nsv3903256copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,794,561-107,234,280 , GRCh38.p12 chr14: 19,652,445-106,826,050 DHRS7, MIR548Y, 1946 more genes
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