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Items: 1 to 20 of 727

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099177copy number variation1nstd231human GRCh38.p12 chr1: 12,639,743-13,111,010 , GRCh37 chr1: 12,699,764-13,178,482 PRAMEF1, PRAMEF2, 20 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7055290inversion1nstd229human GRCh38 chr1: 12,786,723-13,397,565 , GRCh37.p13 chr1: 12,948,044-13,689,279 PRAMEF19, PRAMEF34P, 33 more genes
    nsv7053624inversion1nstd229human GRCh38 chr1: 12,636,558-13,122,425 , GRCh37.p13 chr1: 12,996,150-13,689,213 , GRCh37.p13 chr1: 13,189,995-13,689,279 , GRCh37.p13 chr1: 12,696,563-13,189,898 PRAMEF4, AADACL3, 21 more genes
    nsv7052549inversion1nstd229human GRCh38 chr1: 8,322,830-13,737,741 , GRCh37.p13 chr1: 8,382,890-14,064,236 MIR4632, PLOD1, 166 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6641289copy number variation1nstd229human GRCh38 chr1: 12,789,514-12,791,118 , GRCh37.p13 chr1: 12,849,663-12,851,267 PRAMEF1
    nsv6641288copy number variation1nstd229human GRCh38 chr1: 12,780,101-12,858,800 , GRCh37.p13 chr1: 12,840,244-12,918,655 PRAMEF2, PRAMEF11, 4 more genes
    nsv6641287copy number variation1nstd229human GRCh38 chr1: 12,778,701-12,835,300 , GRCh37.p13 chr1: 12,838,844-12,895,151 PRAMEF11, PRAMEF1, 1 more genes
    nsv6641281copy number variation1nstd229human GRCh38 chr1: 12,740,301-12,813,000 , GRCh37.p13 chr1: 12,800,258-12,873,142 PRAMEF12, CFAP107, 1 more genes
    nsv6641256copy number variation1nstd229human GRCh38 chr1: 12,780,101-12,807,600 , GRCh37.p13 chr1: 12,840,244-12,867,736 PRAMEF1
    nsv6641152copy number variation1nstd229human GRCh38 chr1: 12,779,001-12,835,300 , GRCh37.p13 chr1: 12,839,144-12,895,151 PRAMEF1, LINC01784, 1 more genes
    nsv6641151copy number variation1nstd229human GRCh38 chr1: 12,777,303-12,798,207 , GRCh37.p13 chr1: 12,837,446-12,858,356 PRAMEF12, PRAMEF1
    nsv6641149copy number variation1nstd229human GRCh38 chr1: 12,746,992-12,803,944 , GRCh37.p13 chr1: 12,806,940-12,864,080 PRAMEF12, CFAP107, 1 more genes
    nsv6641143copy number variation1nstd229human GRCh38 chr1: 12,671,714-12,859,402 , GRCh37.p13 chr1: 12,731,725-12,919,257 AADACL3, LINC01784, 7 more genes
    nsv6641061copy number variation1nstd229human GRCh38 chr1: 12,795,701-12,859,200 , GRCh37.p13 chr1: 12,855,850-12,919,055 PRAMEF11, PRAMEF2, 4 more genes
    nsv6641059copy number variation1nstd229human GRCh38 chr1: 12,719,124-12,797,606 , GRCh37.p13 chr1: 12,779,126-12,857,755 PRAMEF1, CFAP107, 2 more genes

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