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Items: 1 to 20 of 507

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6122369copy number variation1nstd186human GRCh37 chr14: 73,526,841-73,531,932 , GRCh38.p12 chr14: 73,060,133-73,065,224 RBM25
    nsv6122264copy number variation1nstd186human GRCh37 chr14: 73,551,415-73,552,227 , GRCh38.p12 chr14: 73,084,707-73,085,519 RBM25
    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
    nsv5976077inversion1nstd209human GRCh38 chr14: 73,085,269-73,141,831 , GRCh37.p13 chr14: 73,551,977-73,608,539 PSEN1, RBM25
    nsv5929906copy number variation1nstd209human GRCh38 chr14: 73,060,133-73,065,223 , GRCh37.p13 chr14: 73,526,841-73,531,931 RBM25
    nsv5927601copy number variation1nstd209human GRCh38 chr14: 73,079,056-73,080,212 , GRCh37.p13 chr14: 73,545,764-73,546,920 RBM25
    nsv5854778copy number variation1nstd209human GRCh38 chr14: 73,060,132-73,065,152 , GRCh37.p13 chr14: 73,526,840-73,531,860 RBM25
    nsv5850581copy number variation1nstd209human GRCh38 chr14: 73,079,090-73,080,089 , GRCh37.p13 chr14: 73,545,798-73,546,797 RBM25
    nsv5697902mobile element insertion2nstd211human GRCh38 chr14: 73,065,870-73,065,870 , GRCh37.p13 chr14: 73,532,578-73,532,578 RBM25
    nsv5694812mobile element insertion1nstd211human GRCh38 chr14: 73,068,405-73,068,405 , GRCh37.p13 chr14: 73,535,113-73,535,113 LOC100422493, RBM25
    nsv5599387copy number variation1nstd207human GRCh38 chr14: 73,085,316-73,085,458 , GRCh37.p13 chr14: 73,552,024-73,552,166 RBM25
    nsv5556024sequence alteration1nstd206human GRCh38 chr14: 73,085,315-73,141,832 , GRCh37.p13 chr14: 73,552,023-73,608,540 PSEN1, RBM25
    nsv5512813copy number variation1nstd206human GRCh38 chr14: 73,084,707-73,085,519 , GRCh37.p13 chr14: 73,551,415-73,552,227 RBM25
    nsv5508718copy number variation1nstd206human GRCh38 chr14: 73,060,133-73,065,231 , GRCh37.p13 chr14: 73,526,841-73,531,939 RBM25
    nsv5503345copy number variation1nstd206human GRCh38 chr14: 73,118,674-73,119,024 , GRCh37.p13 chr14: 73,585,382-73,585,732 RBM25
    nsv5502701copy number variation1nstd206human GRCh38 chr14: 73,079,040-73,080,237 , GRCh37.p13 chr14: 73,545,748-73,546,945 RBM25
    nsv5502645copy number variation1nstd206human GRCh38 chr14: 73,121,947-73,122,145 , GRCh37.p13 chr14: 73,588,655-73,588,853 RBM25
    nsv5497535copy number variation1nstd206human GRCh38 chr14: 73,083,276-73,083,365 , GRCh37.p13 chr14: 73,549,984-73,550,073 RBM25
    nsv5432027mobile element insertion1nstd206human GRCh38 chr14: 73,065,868-73,065,921 , GRCh37.p13 chr14: 73,532,576-73,532,629 RBM25
    nsv5390691copy number variation3nstd186human GRCh37 chr14: 73,545,770-73,546,921 , GRCh38.p12 chr14: 73,079,062-73,080,213 RBM25
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