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Items: 1 to 20 of 195

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7140520copy number variation1nstd232human GRCh37.p13 chr1: 54,670,873-54,670,965 , GRCh38.p12 chr1: 54,205,200-54,205,292 MRPL37
    nsv7140357insertion1nstd232human GRCh37.p13 chr1: 54,675,805-54,675,805 , GRCh38.p12 chr1: 54,210,132-54,210,132 MRPL37
    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
    nsv6651932copy number variation1nstd229human GRCh38 chr1: 54,219,501-54,223,700 , GRCh37.p13 chr1: 54,685,174-54,689,373 SSBP3, MRPL37
    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
    nsv6555312inversion1nstd223human GRCh38 chr1: 54,203,688-54,203,920 , GRCh37.p13 chr1: 54,669,361-54,669,593 MRPL37
    nsv6333713copy number variation1nstd223human GRCh38 chr1: 54,213,179-54,214,318 , GRCh37.p13 chr1: 54,678,852-54,679,991 MRPL37
    nsv6322338copy number variation1nstd223human GRCh38 chr1: 54,198,711-54,200,091 , GRCh37.p13 chr1: 54,664,384-54,665,764 MRPL37, CYB5RL
    nsv6317650copy number variation1nstd223human GRCh38 chr1: 54,198,183-54,199,377 , GRCh37.p13 chr1: 54,663,856-54,665,050 MRPL37, CYB5RL
    nsv6299339copy number variation1nstd186human GRCh37 chr1: 54,668,059-54,668,119 , GRCh38.p12 chr1: 54,202,386-54,202,446 MRPL37
    nsv5984387copy number variation1nstd212human GRCh38 chr1: 54,208,375-54,208,505 , GRCh37.p13 chr1: 54,674,048-54,674,178 MRPL37
    nsv5559249sequence alteration1nstd206human GRCh38 chr1: 54,212,574-54,213,327 , GRCh37.p13 chr1: 54,678,247-54,679,000 MRPL37
    nsv5425376copy number variation1nstd206human GRCh38 chr1: 54,202,386-54,202,446 , GRCh37.p13 chr1: 54,668,059-54,668,119 MRPL37
    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
    nsv5206138copy number variation1nstd204human GRCh37.p13 chr1: 54,524,774-54,847,773 , GRCh38.p13 chr1: 54,059,101-54,382,100 SSBP3, MRPL37, 5 more genes
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