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Items: 1 to 20 of 3841

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3884136copy number variation1nstd102humanPathogenic GRCh38 chr1: 61,277,586-61,426,464 , GRCh37.p13 chr1: 61,743,258-61,892,136 NFIA
    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
    nsv6289887copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,497,698-61,607,171 , GRCh38.p12 chr1: 61,032,026-61,141,499 NFIA
    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
    nsv4681262copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,308-29,510,427 , GRCh38.p12 chr17: 31,095,290-31,183,409 NF1
    nsv7094868copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,508,420-29,592,377 , GRCh38.p12 chr17: 31,181,402-31,265,359 NF1
    nsv5673106copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,508,430-29,592,367 , GRCh38.p12 chr17: 31,181,412-31,265,349 NF1
    nsv7094865copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,055-29,497,035 , GRCh38.p12 chr17: 31,095,037-31,170,017 NF1
    nsv5673102copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,422,308-29,497,035 , GRCh38.p12 chr17: 31,095,290-31,170,017 NF1
    nsv4682949copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,508,420-29,580,296 , GRCh38.p12 chr17: 31,181,402-31,253,278 NF1
    nsv3914349copy number variation1nstd102humanPathogenic NCBI36 chr17: 26,534,711-26,605,624 , GRCh37.p13 chr17: 29,510,585-29,581,498 , GRCh38.p12 chr17: 31,183,567-31,254,480 NF1
    nsv4451016copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,551,732-61,620,930 , GRCh38.p12 chr1: 61,086,060-61,155,258 NFIA
    nsv4451198copy number variation1nstd102humanPathogenic GRCh38 chr17: 31,200,402-31,265,359 , GRCh37 chr17: 29,527,420-29,592,377 NF1
    nsv7095090copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,527,428-29,592,367 , GRCh38.p12 chr17: 31,200,410-31,265,349 NF1
    nsv3886046copy number variation1nstd102humanPathogenic GRCh38 chr17: 31,200,412-31,265,349 , GRCh37 chr17: 29,527,430-29,592,367 NF1
    nsv4452702copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,527,440-29,592,357 , GRCh38 chr17: 31,200,422-31,265,339 NF1
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