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Items: 1 to 20 of 154

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099196copy number variation1nstd231human GRCh38.p12 chr1: 42,172,633-43,430,191 , GRCh37 chr1: 42,638,304-43,895,862 CDC20, MPL, 43 more genes
    nsv7095994copy number variation1nstd102humanUncertain significance GRCh37 chr1: 43,812,096-43,818,443 , GRCh38.p12 chr1: 43,346,425-43,352,772 MPL, CDC20-DT
    nsv7095616copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,803,510-43,806,194 , GRCh38.p12 chr1: 43,337,839-43,340,523 MPL
    nsv7045578inversion1nstd229human GRCh38 chr1: 43,282,621-43,412,254 , GRCh37.p13 chr1: 43,748,292-43,877,925 LOC112268225, TIE1, 9 more genes
    nsv7039200inversion1nstd229human GRCh38 chr1: 43,310,824-43,477,978 , GRCh37.p13 chr1: 43,776,495-43,943,649 SZT2-AS1, MED8-AS1, 11 more genes
    nsv6650418copy number variation1nstd229human GRCh38 chr1: 43,352,750-43,352,851 , GRCh37.p13 chr1: 43,818,421-43,818,522 CDC20-DT, MPL
    nsv6650192copy number variation1nstd229human GRCh38 chr1: 43,282,025-43,341,533 , GRCh37.p13 chr1: 43,747,696-43,807,204 TIE1, C1orf210, 1 more genes
    nsv6649701copy number variation1nstd229human GRCh38 chr1: 43,349,878-43,350,067 , GRCh37.p13 chr1: 43,815,549-43,815,738 MPL
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6310876copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,800,988-43,803,797 , GRCh38.p12 chr1: 43,335,317-43,338,126 MPL
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv6059951insertion1nstd212human GRCh38 chr1: 43,342,060-43,342,060 , GRCh37.p13 chr1: 43,807,731-43,807,731 MPL
    nsv5673174copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,392,692-43,870,241 , GRCh38.p12 chr1: 42,927,021-43,404,570 TMEM125, RNA5SP46, 19 more genes
    nsv5604559insertion1nstd207human GRCh38 chr1: 43,338,071-43,338,071 , GRCh37.p13 chr1: 43,803,742-43,803,742 MPL
    nsv5433108copy number variation1nstd206human GRCh38 chr1: 43,335,317-43,338,126 , GRCh37.p13 chr1: 43,800,988-43,803,797 MPL
    nsv5426993copy number variation1nstd206human GRCh38 chr1: 43,350,608-43,351,364 , GRCh37.p13 chr1: 43,816,279-43,817,035 MPL
    nsv4906195copy number variation1nstd200human GRCh38 chr1: 43,350,608-43,351,364 , GRCh37.p13 chr1: 43,816,279-43,817,035 MPL
    nsv4773284copy number variation1nstd200human GRCh37 chr1: 43,816,279-43,817,035 , GRCh38.p12 chr1: 43,350,608-43,351,364 MPL
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
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