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Items: 1 to 20 of 621

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099176copy number variation1nstd231human GRCh38.p12 chr1: 10,224,807-12,488,948 , GRCh37 chr1: 10,284,865-12,549,002 TNFRSF8, CLCN6, 64 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
    nsv7096008copy number variation1nstd102humanUncertain significance GRCh37 chr1: 9,304,994-12,569,078 , GRCh38.p12 chr1: 9,244,935-12,509,024 NMNAT1, DISP3, 91 more genes
    nsv7095737copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,535,024-11,107,264 , GRCh38.p12 chr1: 10,474,967-11,047,207 MASP2, C1orf127, 8 more genes
    nsv7095543copy number variation1nstd102humanUncertain significance GRCh37 chr1: 9,770,514-11,264,780 , GRCh38.p12 chr1: 9,710,456-11,204,723 DFFA, ANGPTL7, 38 more genes
    nsv7095312copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,687,309-10,687,440 , GRCh38.p12 chr1: 10,627,252-10,627,383 PEX14
    nsv7095311copy number variation1nstd102humanPathogenic GRCh37 chr1: 10,535,024-10,687,440 , GRCh38.p12 chr1: 10,474,967-10,627,383 PEX14, RN7SL614P
    nsv7095310copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 10,535,024-10,535,079 , GRCh38.p12 chr1: 10,474,967-10,475,022 PEX14
    nsv7095235copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,555,311-10,555,398 , GRCh38.p12 chr1: 10,495,254-10,495,341 PEX14
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7054534inversion1nstd229human GRCh38 chr1: 2,972,403-10,562,308 , GRCh37.p13 chr1: 2,888,967-10,622,365 RN7SL731P, LOC105376682, 145 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
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv7047983inversion1nstd229human GRCh38 chr1: 5,346,988-12,521,611 , GRCh37.p13 chr1: 5,407,048-12,581,655 THAP3, UBIAD1, 165 more genes
    nsv7046461inversion1nstd229human GRCh38 chr1: 5,352,168-12,521,473 , GRCh37.p13 chr1: 5,412,228-12,581,517 LINC02606, C1orf127, 165 more genes
    nsv7041670inversion1nstd229human GRCh38 chr1: 10,546,880-10,550,282 , GRCh37.p13 chr1: 10,606,937-10,610,339 PEX14
    nsv7039514inversion1nstd229human GRCh38 chr1: 10,500,136-10,501,672 , GRCh37.p13 chr1: 10,560,193-10,561,729 PEX14
    nsv7039210inversion1nstd229human GRCh38 chr1: 10,542,171-10,542,195 , GRCh37.p13 chr1: 10,602,228-10,602,252 PEX14
    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
    nsv6657044copy number variation1nstd229human GRCh38 chr1: 9,097,701-11,036,600 , GRCh37.p13 chr1: 9,157,760-11,096,657 CENPS-CORT, H6PD, 46 more genes
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