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Items: 1 to 20 of 201

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5681570mobile element insertion1nstd211human GRCh38 chr1: 207,339,250-207,339,250 , GRCh37.p13 chr1: 207,512,595-207,512,595 CD55
    nsv5396106mobile element insertion1nstd206human GRCh38 chr1: 207,339,250-207,339,301 , GRCh37.p13 chr1: 207,512,595-207,512,646 CD55
    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
    nsv5373346translocation1nstd200human GRCh38 chr1: 207,322,170-207,322,170 , GRCh38 chr1: 207,320,559-207,320,559 , GRCh37.p13 chr1: 207,495,515-207,495,515 , GRCh37.p13 chr1: 207,493,904-207,493,904 CD55
    nsv5342732translocation1nstd200human GRCh37 chr1: 207,497,903-207,497,903 , GRCh37 chr1: 207,495,915-207,495,915 , GRCh38.p12 chr1: 207,324,558-207,324,558 , GRCh38.p12 chr1: 207,322,570-207,322,570 CD55
    nsv5336434translocation1nstd200human GRCh37 chr1: 207,532,889-207,532,889 , GRCh37 chr1: 207,510,162-207,510,162 , GRCh38.p12 chr1: 207,336,817-207,336,817 , GRCh38.p12 chr1: 207,359,544-207,359,544 CD55
    nsv5332708translocation1nstd200human GRCh37 chr1: 207,532,889-207,532,889 , GRCh37 chr1: 207,510,756-207,510,756 , GRCh38.p12 chr1: 207,337,411-207,337,411 , GRCh38.p12 chr1: 207,359,544-207,359,544 CD55
    nsv5218455copy number variation1nstd204human GRCh38.p13 chr1: 207,315,201-207,337,500 , GRCh37.p13 chr1: 207,488,546-207,510,845 CD55
    nsv5176227mobile element insertion1nstd203human GRCh38 chr1: 207,357,042-207,357,058 , GRCh37.p13 chr1: 207,530,387-207,530,403 CD55
    nsv5074897mobile element insertion1nstd203human GRCh38 chr1: 207,349,730-207,349,744 , GRCh37.p13 chr1: 207,523,075-207,523,089 CD55
    nsv5073347mobile element insertion1nstd203human GRCh38 chr1: 207,339,233-207,339,250 , GRCh37.p13 chr1: 207,512,578-207,512,595 CD55
    nsv4898392copy number variation1nstd200human GRCh38 chr1: 207,337,893-207,341,389 , GRCh37.p13 chr1: 207,511,238-207,514,734 CD55
    nsv4898391copy number variation1nstd200human GRCh38 chr1: 207,321,039-207,321,763 , GRCh37.p13 chr1: 207,494,384-207,495,108 CD55
    nsv4774156copy number variation1nstd200human GRCh37 chr1: 207,494,384-207,495,108 , GRCh38.p12 chr1: 207,321,039-207,321,763 CD55
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 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
    nsv4580469copy number variation1nstd183human GRCh37 chr1: 207,494,920-207,512,577 , GRCh38.p12 chr1: 207,321,575-207,339,232 CD55
    nsv4580365copy number variation1nstd183human GRCh37 chr1: 207,530,318-207,533,889 , GRCh38.p12 chr1: 207,356,973-207,360,544 CD55
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