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Items: 18

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    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4373280copy number variation1nstd173human GRCh37 chr6: 77,893,518-77,953,431 , GRCh38.p12 chr6: 77,183,801-77,243,714 LOC101928570
    nsv4387213copy number variation434nstd173human GRCh37 chr4: 34,779,032-34,824,730 , GRCh38.p12 chr4: 34,777,410-34,823,108 , GRCh38.p12 chr4|NW_003315915.1: 269,739-315,437 LOC105378262
    nsv4379349copy number variation357nstd173human GRCh37 chr20: 1,560,549-1,597,997 , GRCh38.p12 chr20: 1,579,903-1,617,351 SIRPB1
    nsv4380489copy number variation13nstd173human GRCh37 chr1: 196,716,413-196,741,354 , GRCh38.p12 chr1: 196,747,283-196,772,224 CFH
    nsv4376456copy number variation1782nstd173human GRCh37 chr8: 39,246,772-39,386,964 , GRCh38.p12 chr8: 39,389,253-39,529,445 ADAM5, ADAM3A
    nsv4375212copy number variation547nstd173human GRCh37 chr1: 72,762,663-72,811,904 , GRCh38.p12 chr1: 72,296,980-72,346,221 , GRCh38.p12 chr1|NW_018654707.1: 9,247-67,446 RPL31P12, LOC105378797
    nsv4368457copy number variation2nstd173human GRCh37 chr2: 179,853,545-179,885,358 , GRCh38.p12 chr2: 178,988,818-179,020,631 CCDC141, RPS6P2
    nsv4386377copy number variation5nstd173human GRCh37 chr12: 2,235,877-2,257,920 , GRCh38.p12 chr12: 2,126,711-2,148,754 , GRCh38.p12 chr12|NW_018654718.1: 468,855-490,898 LOC107984131, CACNA1C
    nsv4365905copy number variation1nstd173human GRCh37 chr1: 212,122,515-212,209,261 , GRCh38.p12 chr1: 211,949,173-212,035,919 INTS7, DTL
    nsv4368776copy number variation1nstd173human GRCh37 chrX: 134,754,596-134,802,358 , GRCh38.p12 chrX: 135,620,671-135,668,643 SAGE3P, SAGE4P
    nsv4369825copy number variation122nstd173human GRCh37 chr4: 69,435,901-69,540,429 , GRCh38.p12 chr4: 68,570,183-68,674,711 UGT2B15, LOC100422402, 3 more genes
    nsv4376755copy number variation329nstd173human GRCh37 chr14: 74,001,122-74,024,031 , GRCh38.p12 chr14: 73,534,418-73,557,327 ACOT1, NT5CP2, 1 more genes
    nsv4370631copy number variation136nstd173human GRCh37 chr11: 5,787,573-5,809,230 , GRCh38.p12 chr11: 5,766,343-5,788,000 OR52N1, OR56B2P, 1 more genes
    nsv4382508copy number variation18nstd173human GRCh37 chr16: 15,054,346-15,126,890 , GRCh38.p12 chr16: 14,960,489-15,033,033 MIR1972-1, LOC728138, 1 more genes
    nsv4377664copy number variation2nstd173human GRCh37 chr5: 180,378,887-180,430,797 , GRCh38.p12 chr5: 180,951,887-181,003,797 BTNL3, ARPP19P1, 3 more genes
    nsv4381132copy number variation1nstd173human GRCh37 chr2: 78,887,409-78,917,798 , GRCh38.p12 chr2: 78,660,283-78,690,672 0
    nsv4386306copy number variation141nstd173human GRCh37 chrX: 924,088-944,608 , GRCh38.p12 chrX: 963,353-983,873 0
    nsv4375511copy number variation1nstd173human GRCh37 chr12: 5,639,756-6,266,816 , GRCh38.p12 chr12: 5,530,590-6,157,650 VWF, LOC101901829, 4 more genes
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