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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096603copy number variation1nstd102humanUncertain significance GRCh37 chr2: 209,136,244-209,220,029 , GRCh38.p12 chr2: 208,271,520-208,355,305 PIKFYVE
    nsv7096393copy number variation1nstd102humanPathogenic GRCh37 chr2: 208,986,397-209,220,029 , GRCh38.p12 chr2: 208,121,673-208,355,305 PIKFYVE, CRYGA, 11 more genes
    nsv7057573inversion1nstd229human GRCh38 chr2: 207,521,365-209,493,860 , GRCh37.p13 chr2: 208,386,089-210,358,584 CRYGEP, CRYGFP, 40 more genes
    nsv7053726inversion1nstd229human GRCh38 chr2: 208,215,484-208,905,075 , GRCh37.p13 chr2: 209,080,208-209,769,799 LOC105373856, H3P9, 10 more genes
    nsv6697830copy number variation1nstd229human GRCh38 chr2: 208,241,704-208,481,804 , GRCh37.p13 chr2: 209,106,428-209,346,529 IDH1-AS1, LOC105373855, 6 more genes
    nsv6694250copy number variation1nstd229human GRCh38 chr2: 208,328,074-208,328,219 , GRCh37.p13 chr2: 209,192,798-209,192,943 PIKFYVE
    nsv6693652copy number variation1nstd229human GRCh38 chr2: 208,260,299-208,265,150 , GRCh37.p13 chr2: 209,125,023-209,129,874 PIKFYVE
    nsv6689850copy number variation1nstd229human GRCh38 chr2: 208,272,878-208,272,912 , GRCh37.p13 chr2: 209,137,602-209,137,636 PIKFYVE
    nsv6687767copy number variation1nstd229human GRCh38 chr2: 208,303,107-208,328,016 , GRCh37.p13 chr2: 209,167,831-209,192,740 PIKFYVE
    nsv6685025copy number variation1nstd229human GRCh38 chr2: 208,348,053-208,352,487 , GRCh37.p13 chr2: 209,212,777-209,217,211 PIKFYVE
    nsv6685010copy number variation1nstd229human GRCh38 chr2: 208,275,563-208,387,646 , GRCh37.p13 chr2: 209,140,287-209,252,371 ARPC1BP1, PIKFYVE, 1 more genes
    nsv6683830copy number variation1nstd229human GRCh38 chr2: 207,947,519-208,320,337 , GRCh37.p13 chr2: 208,812,243-209,185,061 C2orf80, CRYGEP, 18 more genes
    nsv6680963copy number variation1nstd229human GRCh38 chr2: 208,254,201-208,272,300 , GRCh37.p13 chr2: 209,118,925-209,137,024 PIKFYVE, IDH1, 2 more genes
    nsv6680763copy number variation1nstd229human GRCh38 chr2: 208,330,301-208,357,600 , GRCh37.p13 chr2: 209,195,025-209,222,324 PIKFYVE
    nsv6680573copy number variation1nstd229human GRCh38 chr2: 208,288,844-208,289,853 , GRCh37.p13 chr2: 209,153,568-209,154,577 PIKFYVE
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6627544copy number variation1nstd224human GRCh37 chr2: 209,215,633-209,358,271 , GRCh38.p12 chr2: 208,350,909-208,493,546 PIKFYVE, H3P9, 3 more genes
    nsv6546992inversion1nstd223human GRCh38 chr2: 208,215,482-208,905,075 , GRCh37.p13 chr2: 209,080,206-209,769,799 LOC105373856, MYL6BP1, 10 more genes
    nsv6545388inversion1nstd223human GRCh38 chr2: 208,308,121-208,308,777 , GRCh37.p13 chr2: 209,172,845-209,173,501 PIKFYVE
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