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Items: 1 to 20 of 204

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5674313insertion1nstd102humanPathogenic GRCh37 chr17: 29,652,919-29,652,919 , GRCh38 chr17: 31,325,901-31,325,901 NF1
    nsv5674310insertion1nstd102humanPathogenic GRCh37 chr17: 29,657,407-29,657,407 , GRCh38 chr17: 31,330,389-31,330,389 NF1
    nsv5674306insertion1nstd102humanPathogenic GRCh37 chr17: 29,556,359-29,556,359 , GRCh38 chr17: 31,229,341-31,229,341 NF1
    nsv5674304delins1nstd102humanPathogenic GRCh37 chr17: 29,586,090-29,586,167 , GRCh38 chr17: 31,259,072-31,259,149 NF1
    nsv5674292insertion1nstd102humanPathogenic GRCh37 chr17: 29,483,135-29,483,135 , GRCh38 chr17: 31,156,117-31,156,117 NF1
    nsv5674286insertion1nstd102humanPathogenic GRCh37 chr17: 29,550,575-29,550,575 , GRCh38 chr17: 31,223,557-31,223,557 NF1
    nsv5674285insertion1nstd102humanPathogenic GRCh37 chr17: 29,670,098-29,670,098 , GRCh38 chr17: 31,343,080-31,343,080 NF1
    nsv5674284insertion1nstd102humanPathogenic GRCh37 chr17: 29,483,063-29,483,063 , GRCh38 chr17: 31,156,045-31,156,045 NF1
    nsv5674254insertion1nstd102humanPathogenic GRCh37 chr17: 29,556,072-29,556,072 , GRCh38 chr17: 31,229,054-31,229,054 NF1
    nsv5673112copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,654,511-29,667,669 , GRCh38.p12 chr17: 31,327,493-31,340,651 NF1
    nsv5673111copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,587,625-29,669,475 , GRCh38.p12 chr17: 31,260,607-31,342,457 NF1, LOC101927057, 3 more genes
    nsv5673110copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,586,040-29,701,173 , GRCh38.p12 chr17: 31,259,022-31,374,155 AK4P1, EVI2A, 4 more genes
    nsv5673109copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,548,419-29,557,002 , GRCh38.p12 chr17: 31,221,401-31,229,984 NF1
    nsv5673108copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,528,423-29,528,509 , GRCh38.p12 chr17: 31,201,405-31,201,491 NF1
    nsv5673107copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,527,428-29,657,848 , GRCh38.p12 chr17: 31,200,410-31,330,830 EVI2A, NF1, 3 more genes
    nsv5673106copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,508,430-29,592,367 , GRCh38.p12 chr17: 31,181,412-31,265,349 NF1
    nsv5673105copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,490,184-29,592,377 , GRCh38.p12 chr17: 31,163,166-31,265,359 NF1
    nsv5673104copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 29,482,991-29,548,957 , GRCh38.p12 chr17: 31,155,973-31,221,939 NF1
    nsv5673103copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,322-29,664,606 , GRCh38.p12 chr17: 31,095,304-31,337,588 EVI2A, EVI2B, 3 more genes
    nsv5673102copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,308-29,497,035 , GRCh38.p12 chr17: 31,095,290-31,170,017 NF1
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