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Items: 1 to 20 of 35

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6311957copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,868,376-148,873,012 , GRCh38.p12 chr3: 149,150,589-149,155,225 HPS3
    nsv3885401copy number variation1nstd102humanPathogenic GRCh38 chr3: 149,126,714-149,130,632 , GRCh37 chr3: 148,844,501-148,848,419 HPS3
    nsv7096939copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,868,376-148,871,445 , GRCh38.p12 chr3: 149,150,589-149,153,658 HPS3
    nsv5673557copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,847,511-148,847,747 , GRCh38.p12 chr3: 149,129,724-149,129,960 HPS3
    nsv4450387copy number variation1nstd102humanPathogenic GRCh38 chr3: 149,129,714-149,129,950 , GRCh37 chr3: 148,847,501-148,847,737 HPS3
    nsv6311857copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,863,121-148,863,353 , GRCh38.p12 chr3: 149,145,334-149,145,566 HPS3
    nsv4682141copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,847,511-148,847,727 , GRCh38.p12 chr3: 149,129,724-149,129,940 HPS3
    nsv4683405copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 148,856,981-148,858,808 , GRCh38 chr3: 149,139,194-149,141,021 HPS3
    nsv4683682copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 148,859,072-148,859,177 , GRCh38.p12 chr3: 149,141,285-149,141,390 HPS3
    nsv7096542copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,876,443-148,885,037 , GRCh38.p12 chr3: 149,158,656-149,167,250 HPS3, CP
    nsv6315250copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 148,890,285-148,939,833 , GRCh38.p12 chr3: 149,172,498-149,222,046 HPS3, CP
    nsv6315216copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 148,847,728-148,890,984 , GRCh38.p12 chr3: 149,129,941-149,173,197 HPS3, CP
    nsv4681389copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 148,857,781-148,890,019 , GRCh38.p12 chr3: 149,139,994-149,172,232 HPS3, CP
    nsv4682548copy number variation1nstd102humanUncertain significance GRCh37 chr3: 148,891,481-148,899,940 , GRCh38.p12 chr3: 149,173,694-149,182,153 HPS3, CP
    nsv6311445copy number variation1nstd102humanUncertain significance GRCh37 chr3: 148,847,511-148,906,009 , GRCh38.p12 chr3: 149,129,724-149,188,222 HPS3, CP
    nsv6290244copy number variation1nstd102humanPathogenic GRCh37 chr3: 143,439,359-165,252,122 , GRCh38.p12 chr3: 143,720,517-165,534,334 HPS3, LOC102724145, 273 more genes
    nsv3920790copy number variation1nstd102humanPathogenic GRCh38 chr3: 134,257,180-149,729,538 , NCBI36 chr3: 135,458,712-150,930,015 , GRCh37 chr3: 133,976,022-149,447,325 HPS3, TFDP2, 203 more genes
    nsv3887637copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,425,748-153,220,169 , GRCh38.p12 chr3: 148,707,961-153,502,380 HPS3, LOC101927942, 97 more genes
    nsv6311444copy number variation1nstd102humanPathogenic GRCh37 chr3: 148,447,967-151,176,497 , GRCh38.p12 chr3: 148,730,180-151,458,709 HPS3, TM4SF1, 68 more genes
    nsv3885606copy number variation1nstd102humanPathogenic GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156 HPS3, RNU4-62P, 2880 more genes
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