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Items: 1 to 20 of 181

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099205copy number variation1nstd231human GRCh38.p12 chr1: 53,166,972-54,495,490 , GRCh37 chr1: 53,632,644-54,961,163 CPT2, DIO1, 32 more genes
    nsv7053230inversion1nstd229human GRCh38 chr1: 54,133,615-56,561,151 , GRCh37.p13 chr1: 54,599,288-57,026,824 GOT2P1, CIMAP2, 41 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv6651931copy number variation1nstd229human GRCh38 chr1: 54,175,268-54,178,697 , GRCh37.p13 chr1: 54,640,941-54,644,370 CYB5RL
    nsv6651850copy number variation1nstd229human GRCh38 chr1: 54,198,362-54,220,946 , GRCh37.p13 chr1: 54,664,035-54,686,619 MRPL37, CYB5RL
    nsv6651849copy number variation1nstd229human GRCh38 chr1: 54,162,601-54,293,200 , GRCh37.p13 chr1: 54,628,274-54,758,873 CYB5RL, SSBP3-AS1, 2 more genes
    nsv6651725copy number variation1nstd229human GRCh38 chr1: 54,200,415-54,201,037 , GRCh37.p13 chr1: 54,666,088-54,666,710 MRPL37, CYB5RL
    nsv6651724copy number variation1nstd229human GRCh38 chr1: 54,179,530-54,190,871 , GRCh37.p13 chr1: 54,645,203-54,656,544 CYB5RL
    nsv6651723copy number variation1nstd229human GRCh38 chr1: 54,169,324-54,171,043 , GRCh37.p13 chr1: 54,634,997-54,636,716 CYB5RL
    nsv6651182copy number variation1nstd229human GRCh38 chr1: 54,170,922-54,175,005 , GRCh37.p13 chr1: 54,636,595-54,640,678 CYB5RL
    nsv6322338copy number variation1nstd223human GRCh38 chr1: 54,198,711-54,200,091 , GRCh37.p13 chr1: 54,664,384-54,665,764 MRPL37, CYB5RL
    nsv6322063copy number variation1nstd223human GRCh38 chr1: 54,172,045-54,175,655 , GRCh37.p13 chr1: 54,637,718-54,641,328 CYB5RL
    nsv6317650copy number variation1nstd223human GRCh38 chr1: 54,198,183-54,199,377 , GRCh37.p13 chr1: 54,663,856-54,665,050 MRPL37, CYB5RL
    nsv5984617copy number variation1nstd212human GRCh38 chr1: 54,197,857-54,197,992 , GRCh37.p13 chr1: 54,663,530-54,663,665 CYB5RL
    nsv5947621insertion1nstd209human GRCh38 chr1: 54,185,303-54,185,303 , GRCh37.p13 chr1: 54,650,976-54,650,976 CYB5RL
    nsv5725708mobile element insertion2nstd211human GRCh38 chr1: 54,185,303-54,185,303 , GRCh37.p13 chr1: 54,650,976-54,650,976 CYB5RL
    nsv5558562mobile element insertion1nstd206human GRCh38 chr1: 54,185,314-54,185,354 , GRCh37.p13 chr1: 54,650,987-54,651,027 CYB5RL
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5296585copy number variation1nstd204human GRCh38.p13 chr1: 54,059,178-54,382,057 , GRCh37.p13 chr1: 54,524,851-54,847,730 SSBP3, MRPL37, 5 more genes
    nsv5213457copy number variation1nstd204human GRCh38.p13 chr1: 54,168,811-54,170,042 , GRCh37.p13 chr1: 54,634,484-54,635,715 CYB5RL
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