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Items: 1 to 20 of 3294033

  • The following terms were not found in dbVar: Neoporteria, curvispina, robusta.
  • Quoted phrase not found.
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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3876238copy number variation1nstd102humanPathogenic GRCh38 chr7: 69,899,499-70,435,751 , GRCh37.p13 chr7: 69,364,485-69,900,737 AUTS2
    nsv7137180copy number variation1nstd102humanPathogenic GRCh38 chrX: 123,184,278-123,490,915 , GRCh37.p13 chrX: 122,318,131-122,624,766 GRIA3
    nsv6310620copy number variation1nstd102humanPathogenic GRCh37 chr19: 13,427,906-13,617,038 , GRCh38.p12 chr19: 13,317,092-13,506,224 CACNA1A
    nsv3881933copy number variation1nstd102humanPathogenic GRCh38 chr3: 70,992,485-71,180,270 , GRCh37 chr3: 71,041,636-71,229,421 FOXP1
    nsv3881428copy number variation2nstd102humanPathogenic GRCh38 chr6: 161,785,752-161,973,437 , GRCh37 chr6: 162,206,784-162,394,469 PRKN
    nsv7097338copy number variation1nstd102humanPathogenic GRCh37 chr6: 51,586,774-51,752,053 , GRCh38.p12 chr6: 51,721,976-51,887,255 PKHD1
    nsv3877660copy number variation1nstd102humanPathogenic GRCh38 chr19: 13,359,800-13,505,931 , GRCh37.p13 chr19: 13,470,614-13,616,745 CACNA1A
    nsv3879096copy number variation1nstd102humanPathogenic GRCh37 chr12: 23,641,726-23,779,213 , GRCh38 chr12: 23,488,792-23,626,279 SOX5
    nsv3886621copy number variation1nstd102humanPathogenic GRCh38 chr19: 7,112,255-7,249,328 , GRCh37.p13 chr19: 7,112,266-7,249,339 INSR
    nsv5672872copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,314-29,548,957 , GRCh38.p12 chr17: 31,095,296-31,221,939 NF1
    nsv5673030copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,055-29,541,613 , GRCh38.p12 chr17: 31,095,037-31,214,595 NF1
    nsv6310371copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,482,991-29,592,377 , GRCh38.p12 chr17: 31,155,973-31,265,359 NF1
    nsv6310134copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,048-29,527,428 , GRCh38.p12 chr17: 31,095,030-31,200,410 NF1
    nsv5673105copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,490,184-29,592,377 , GRCh38.p12 chr17: 31,163,166-31,265,359 NF1
    nsv5672963copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,482,991-29,577,082 , GRCh38.p12 chr17: 31,155,973-31,250,064 NF1
    nsv6313471copy number variation1nstd102humanPathogenic GRCh37 chrX: 8,501,036-8,591,731 , GRCh38.p12 chrX: 8,532,995-8,623,690 ANOS1
    nsv4681262copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,308-29,510,427 , GRCh38.p12 chr17: 31,095,290-31,183,409 NF1
    nsv3881180copy number variation1nstd102humanPathogenic GRCh38 chr19: 13,214,609-13,300,549 , GRCh37.p13 chr19: 13,325,423-13,411,363 CACNA1A
    nsv1398393copy number variation1nstd102humanPathogenic GRCh38 chr19: 13,408,530-13,493,692 , NCBI36 chr19: 13,380,344-13,465,506 , GRCh37 chr19: 13,519,344-13,604,506 CACNA1A
    nsv7094868copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,508,420-29,592,377 , GRCh38.p12 chr17: 31,181,402-31,265,359 NF1
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