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Items: 1 to 20 of 145

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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
    nsv7095747copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,875,883-11,907,741 , GRCh38.p12 chr1: 11,815,826-11,847,684 NPPA, NPPA-AS1, 1 more genes
    nsv7095700copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,906,066-12,066,770 , GRCh38.p12 chr1: 11,846,009-12,006,713 NPPB, PLOD1, 7 more genes
    nsv7095699copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,847,760-12,066,770 , GRCh38.p12 chr1: 11,787,703-12,006,713 MTHFR, NPPB, 10 more genes
    nsv7095692copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,698,999-11,907,741 , GRCh38.p12 chr1: 10,638,942-11,847,684 MTHFR, UBIAD1, 36 more genes
    nsv7095240copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,882,732-11,907,741 , GRCh38.p12 chr1: 11,822,675-11,847,684 NPPA-AS1, CLCN6, 1 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
    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
    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
    nsv6640743copy number variation1nstd229human GRCh38 chr1: 11,838,187-11,855,595 , GRCh37.p13 chr1: 11,898,244-11,915,652 NPPA-AS1, CLCN6, 2 more genes
    nsv6640529copy number variation1nstd229human GRCh38 chr1: 11,847,137-11,855,070 , GRCh37.p13 chr1: 11,907,194-11,915,127 NPPA-AS1, NPPA
    nsv6640305copy number variation1nstd229human GRCh38 chr1: 11,514,401-12,295,600 , GRCh37.p13 chr1: 11,574,458-12,355,657 PLOD1, MIR4632, 31 more genes
    nsv6638770copy number variation1nstd229human GRCh38 chr1: 10,461,501-12,236,800 , GRCh37.p13 chr1: 10,521,558-12,296,857 RN7SL614P, CFL1P6, 57 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
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