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Items: 15

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    Number of Variants: 15

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3891425copy number variation1nstd102humanPathogenic NCBI36 chr1: 28,623,965-33,361,042 , GRCh37 chr1: 28,751,378-33,588,455 , GRCh38 chr1: 28,424,867-33,122,854 TXLNA, SNHG3, 115 more genes
    nsv3895257copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,239,605-33,825,029 , NCBI36 chr1: 31,012,192-33,597,616 , GRCh38 chr1: 30,766,758-33,359,428 TXLNA, LOC105378623, 85 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 TXLNA, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 TXLNA, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 TXLNA, RNU1-153P, 4887 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TXLNA, TMEM222, 453 more genes
    nsv3874782copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357 TXLNA, LOC101929444, 143 more genes
    nsv3907483copy number variation1nstd102humanPathogenic GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233 TXLNA, ATP5IF1, 138 more genes
    nsv3905012copy number variation1nstd102humanPathogenic GRCh38 chr1: 31,122,108-32,402,160 , GRCh37 chr1: 31,594,955-32,867,761 , NCBI36 chr1: 31,367,542-32,640,348 TXLNA, LDC1P, 42 more genes
    nsv4674454copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818 TXLNA, AK2, 97 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 TXLNA, LINC01776, 1853 more genes
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 TXLNA, DCDC2B, 130 more genes
    nsv4454237copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,139,063-32,940,848 , GRCh38.p12 chr1: 31,673,462-32,475,247 TXLNA, IQCC, 26 more genes
    nsv3878546copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,608,682-32,953,541 , GRCh38.p12 chr1: 32,143,081-32,487,940 TXLNA, FAM167B, 18 more genes
    nsv6313817copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,462,251-32,721,488 , GRCh38.p12 chr1: 31,996,650-32,255,887 TXLNA, DCDC2B, 11 more genes
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