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Items: 1 to 20 of 161

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5829523copy number variation1nstd209human GRCh38 chr1: 240,732,677-240,780,651 , GRCh37.p13 chr1: 240,895,977-240,943,951 RGS7, LOC100506929, 1 more genes
    nsv5563714sequence alteration1nstd206human GRCh38 chr1: 239,954,099-244,216,818 , GRCh37.p13 chr1: 240,117,399-244,380,120 , CHML, 66 more genes
    nsv5381296copy number variation1nstd102humanPathogenic GRCh37 chr1: 240,554,955-247,342,593 , GRCh38.p12 chr1: 240,391,655-247,179,291 RPL6P3, RN7SKP12, 108 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4904532copy number variation1nstd200human GRCh38 chr1: 240,716,904-240,753,470 , GRCh37.p13 chr1: 240,880,204-240,916,770 LOC100506929
    nsv4781547copy number variation1nstd200human GRCh37 chr1: 240,880,204-240,916,770 , GRCh38.p12 chr1: 240,716,904-240,753,470 LOC100506929
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4673946copy number variation1nstd102humanUncertain significance GRCh37 chr1: 240,676,485-241,289,216 , GRCh38.p12 chr1: 240,513,185-241,125,916 RNU5F-8P, LOC105373228, 9 more genes
    nsv4580909copy number variation1nstd183human GRCh37 chr1: 239,364,440-241,422,255 , GRCh38.p12 chr1: 239,201,140-241,258,955 , PSMD2P1, 22 more genes
    nsv4580814copy number variation1nstd183human GRCh37 chr1: 240,048,298-243,410,504 , GRCh38.p12 chr1: 239,884,998-243,247,202 , LOC105373228, 55 more genes
    nsv4580552copy number variation1nstd183human GRCh37 chr1: 240,832,761-241,094,417 , GRCh38.p12 chr1: 240,669,461-240,931,117 RGS7, THAP12P8, 4 more genes
    nsv4455005copy number variation1nstd102humanPathogenic GRCh37 chr1: 238,669,293-249,224,684 , GRCh38.p12 chr1: 238,505,993-248,930,485 ZNF731P, RNU6-947P, 212 more genes
    nsv4453906copy number variation1nstd102humanPathogenic GRCh37 chr1: 235,582,580-249,224,684 , GRCh38.p12 chr1: 235,419,265-248,930,485 YWHAQP9, LOC107985747, 268 more genes
    nsv4451077copy number variation1nstd102humanPathogenic GRCh37 chr1: 237,244,834-242,310,908 , GRCh38.p12 chr1: 237,081,534-242,147,606 LOC100128958, PSMD2P1, 60 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4436557copy number variation1nstd102humanUncertain significance GRCh37 chr1: 239,423,954-241,162,538 , GRCh38.p12 chr1: 239,260,654-240,999,238 RFKP1, ADH5P3, 19 more genes
    nsv4436466copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 238,817,623-244,138,230 , GRCh38.p12 chr1: 238,654,323-243,974,928 CHML, CHRM3, 65 more genes
    nsv4059533copy number variation1nstd166human GRCh37.p13 chr1: 240,877,415-240,918,620 , GRCh38.p12 chr1: 240,714,115-240,755,320 LOC100506929
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