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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv870244copy number variation26nstd53human NCBI36 chr7: 141,408,072-141,438,504 , GRCh37.p13 chr7: 141,761,603-141,792,035 , GRCh38.p12 chr7: 142,061,803-142,092,235 , GRCh38.p12 chr7|NT_187562.1: 23,683-54,115 , GRCh37.p13 chr7|NW_003571040.1: 203,754-234,186 MGAM
    nsv870186copy number variation10nstd53human NCBI36 chr1: 167,493,827-167,520,743 , GRCh38.p12 chr1: 169,257,965-169,284,881 , GRCh37.p13 chr1: 169,227,203-169,254,119 NME7
    nsv869733copy number variation4nstd53human NCBI36 chrX: 211,789-244,281 , GRCh37.p13 chrX: 291,789-324,281 , GRCh38.p12 chrX: 331,054-363,546 , GRCh38.p12 chrX|NT_187667.1: 3,874-36,039 , GRCh38.p12 chrX|NT_187634.1: 14,250-46,899 PPP2R3B
    nsv870222copy number variation1nstd53human GRCh38.p12 chr2: 173,864,009-173,908,913 , NCBI36 chr2: 174,436,983-174,481,887 , GRCh37.p13 chr2: 174,728,737-174,773,641 SP3, RPL5P7
    nsv869730copy number variation122nstd53human GRCh38.p12 chr8: 39,377,532-39,528,580 , NCBI36 chr8: 39,354,208-39,505,256 , GRCh37.p13 chr8: 39,235,051-39,386,099 ADAM3A, ADAM5
    nsv870181copy number variation1nstd53human NCBI36 chr17: 6,981,046-7,022,559 , GRCh37.p13 chr17: 7,040,322-7,081,835 , GRCh38.p12 chr17: 7,137,003-7,178,516 ASGR1, RPL7AP64, 1 more genes
    nsv870011copy number variation2nstd53human NCBI36 chr1: 144,322,118-144,530,059 , GRCh38.p12 chr1: 145,616,358-145,824,352 , GRCh37.p13 chr1: 145,610,761-145,818,702 , GRCh37.p13 chr1|NW_003871055.3: 2,431,771-2,639,765 PDZK1, POLR3C, 3 more genes
    nsv869877copy number variation2nstd53human NCBI36 chr11: 55,142,262-55,187,282 , GRCh37.p13 chr11: 55,385,686-55,430,706 , GRCh38.p12 chr11: 55,618,210-55,663,230 OR4P4, OR4S2, 1 more genes
    nsv869672copy number variation3nstd53human NCBI36 chr14: 105,026,176-105,071,694 , GRCh38.p12 chr14: 105,488,794-105,533,002 , GRCh37.p13 chr14: 105,955,131-106,000,649 , GRCh37.p13 chr14|NW_004166863.1: 151,961-197,479 CRIP1, TMEM121, 2 more genes
    nsv870427copy number variation13nstd53human NCBI36 chr1: 17,086,757-17,125,967 , GRCh38.p12 chr1: 16,887,675-16,926,885 , GRCh37.p13 chr1: 17,214,170-17,253,380 CROCC, RNU1-2, 3 more genes
    nsv870140copy number variation10nstd53human GRCh37.p13 chr3: 195,340,900-195,454,454 , GRCh38.p12 chr3: 195,614,029-195,727,583 , NCBI36 chr3: 196,822,189-196,940,125 , GRCh38.p12 chr3|NT_187649.1: 67,117-139,787 , GRCh38.p12 chr3|NT_187688.1: 67,117-140,349 , GRCh38.p12 chr3|NT_187690.1: 67,126-141,061 , GRCh38.p12 chr3|NT_187691.1: 67,287-142,498 , GRCh38.p12 chr3|NT_187678.1: 68,461-143,431 , GRCh38.p12 chr3|NT_187689.1: 23,110-98,080 , GRCh38.p12 chr3|NT_187532.1: 23,110-98,080 MUC20, MIR570HG, 9 more genes
    nsv870413copy number variation41nstd53human GRCh38.p12 chr2: 34,472,710-34,513,110 , NCBI36 chr2: 34,551,281-34,591,681 , GRCh37.p13 chr2: 34,697,777-34,738,177 0
    nsv869637copy number variation57nstd53human NCBI36 chr14: 105,606,483-105,623,070 , GRCh37.p13 chr14: 106,535,438-106,552,025 , GRCh38.p12 chr: NaN-NaN 0
    nsv870257copy number variation1nstd53human GRCh38.p12 chr4: 150,744,197-151,151,715 , GRCh37.p13 chr4: 151,665,349-152,072,867 , NCBI36 chr4: 151,884,799-152,292,317 LRBA, RPS3A, 6 more genes
    nsv869782copy number variation92nstd53human NCBI36 chr14: 19,273,348-19,478,367 , GRCh38.p12 chr14: 19,735,349-19,940,368 , GRCh37.p13 chr14: 20,203,508-20,408,527 OR4K6P, OR4K5, 10 more genes
    nsv869958copy number variation83nstd53human GRCh37.p13 chr3: 162,504,822-162,619,082 , GRCh38.p12 chr3: 162,787,034-162,901,294 , NCBI36 chr3: 163,987,516-164,101,776 0
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