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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099226copy number variation1nstd231human GRCh38.p12 chr1: 115,063,638-119,984,872 , GRCh37 chr1: 115,606,259-120,527,495 ATP1A1, CASQ2, 103 more genes
    nsv6640941copy number variation1nstd229human GRCh38 chr1: 118,609,328-118,641,726 , GRCh37.p13 chr1: 119,151,951-119,184,349 PSMC1P12
    nsv6640940copy number variation1nstd229human GRCh38 chr1: 118,567,647-118,668,216 , GRCh37.p13 chr1: 119,110,270-119,210,839 PSMC1P12
    nsv6640756copy number variation1nstd229human GRCh38 chr1: 118,587,465-118,753,717 , GRCh37.p13 chr1: 119,130,088-119,296,340 PSMC1P12, LOC100421281
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6133552copy number variation1nstd213human GRCh37 chr1: 119,020,000-119,290,001 , GRCh38.p12 chr1: 118,477,377-118,747,378 PSMC1P12, LOC100421281
    nsv6133551copy number variation1nstd213human GRCh37 chr1: 118,860,000-120,540,001 , GRCh38.p12 chr1: 118,317,377-119,997,378 HSD3B1, WARS2, 39 more genes
    nsv5873850copy number variation1nstd209human GRCh38 chr1: 118,609,328-118,641,725 , GRCh37.p13 chr1: 119,151,951-119,184,348 PSMC1P12
    nsv5827930copy number variation1nstd209human GRCh38 chr1: 118,608,826-118,631,913 , GRCh37.p13 chr1: 119,151,449-119,174,536 PSMC1P12
    nsv5685159mobile element insertion2nstd211human GRCh38 chr1: 118,613,502-118,613,502 , GRCh37.p13 chr1: 119,156,125-119,156,125 PSMC1P12
    nsv5398808mobile element insertion1nstd206human GRCh38 chr1: 118,613,502-118,613,553 , GRCh37.p13 chr1: 119,156,125-119,156,176 PSMC1P12
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5070710mobile element insertion1nstd203human GRCh38 chr1: 118,613,482-118,613,502 , GRCh37.p13 chr1: 119,156,105-119,156,125 PSMC1P12
    nsv5064559mobile element insertion1nstd203human GRCh38 chr1: 118,613,480-118,613,502 , GRCh37.p13 chr1: 119,156,103-119,156,125 PSMC1P12
    nsv4894462copy number variation1nstd200human GRCh38 chr1: 118,609,315-118,641,746 , GRCh37.p13 chr1: 119,151,938-119,184,369 PSMC1P12
    nsv4894461copy number variation1nstd200human GRCh38 chr1: 118,609,328-118,626,314 , GRCh37.p13 chr1: 119,151,951-119,168,937 PSMC1P12
    nsv4781155copy number variation1nstd200human GRCh37 chr1: 119,151,916-119,184,385 , GRCh38.p12 chr1: 118,609,293-118,641,762 PSMC1P12
    nsv4781154copy number variation1nstd200human GRCh37 chr1: 119,151,951-119,168,937 , GRCh38.p12 chr1: 118,609,328-118,626,314 PSMC1P12
    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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