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Items: 1 to 20 of 277

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5926336copy number variation1nstd209human GRCh38 chr9: 95,442,254-95,442,380 , GRCh37.p13 chr9: 98,204,536-98,204,662 PTCH1
    nsv5920998copy number variation1nstd209human GRCh38 chr9: 95,503,732-95,504,060 , GRCh37.p13 chr9: 98,266,014-98,266,342 PTCH1
    nsv5916092copy number variation1nstd209human GRCh38 chr9: 95,442,288-95,443,984 , GRCh37.p13 chr9: 98,204,570-98,206,266 PTCH1
    nsv5674244insertion1nstd102humanPathogenic GRCh37 chr9: 98,244,306-98,244,306 , GRCh38 chr9: 95,482,024-95,482,024 PTCH1
    nsv5674178copy number variation1nstd102humanPathogenic GRCh37 chr9: 98,204,264-98,271,831 , GRCh38.p12 chr9: 95,441,982-95,509,549 LOC100507346, PTCH1
    nsv5673897copy number variation1nstd102humanPathogenic GRCh37 chr9: 98,229,392-98,232,219 , GRCh38.p12 chr9: 95,467,110-95,469,937 PTCH1, LOC100507346
    nsv5673832copy number variation1nstd102humanPathogenic GRCh37 chr9: 98,247,957-98,248,166 , GRCh38.p12 chr9: 95,485,675-95,485,884 PTCH1
    nsv5600568copy number variation1nstd207human GRCh38 chr9: 95,503,732-95,504,060 , GRCh37.p13 chr9: 98,266,014-98,266,342 PTCH1
    nsv5564503copy number variation1nstd102humanUncertain significance GRCh37 chr9: 98,226,337-98,248,166 , GRCh38.p12 chr9: 95,464,055-95,485,884 LOC100507346, PTCH1
    nsv5493649copy number variation1nstd206human GRCh38 chr9: 95,495,610-95,495,708 , GRCh37.p13 chr9: 98,257,892-98,257,990 PTCH1
    nsv5492673copy number variation1nstd206human GRCh38 chr9: 95,500,051-95,500,185 , GRCh37.p13 chr9: 98,262,333-98,262,467 PTCH1
    nsv5480412copy number variation1nstd206human GRCh38 chr9: 95,503,733-95,504,050 , GRCh37.p13 chr9: 98,266,015-98,266,332 PTCH1
    nsv5382567mobile element deletion2nstd186human GRCh37 chr9: 98,266,015-98,266,333 , GRCh38.p12 chr9: 95,503,733-95,504,051 PTCH1
    nsv5381561copy number variation1nstd102humanPathogenic GRCh37 chr9: 97,834,573-107,199,088 , GRCh38.p12 chr9: 95,072,291-104,436,807 TBC1D2, ZNF782, 170 more genes
    nsv5372848translocation1nstd200human GRCh38 chr9: 95,507,155-95,507,155 , GRCh38 chr9: 95,507,223-95,507,223 , GRCh37.p13 chr9: 98,269,437-98,269,437 , GRCh37.p13 chr9: 98,269,505-98,269,505 PTCH1
    nsv5372847translocation1nstd200human GRCh38 chr9: 95,503,171-95,503,171 , GRCh38 chr9: 95,502,903-95,502,903 , GRCh37.p13 chr9: 98,265,185-98,265,185 , GRCh37.p13 chr9: 98,265,453-98,265,453 PTCH1
    nsv5203660mobile element deletion1nstd204human GRCh38.p13 chr9: 95,503,733-95,504,051 , GRCh37.p13 chr9: 98,266,015-98,266,333 PTCH1
    nsv5135257mobile element insertion1nstd203human GRCh38 chr9: 95,504,039-95,504,057 , GRCh37.p13 chr9: 98,266,321-98,266,339 PTCH1
    nsv4982629copy number variation1nstd200human GRCh38 chr9: 95,495,610-95,495,708 , GRCh37.p13 chr9: 98,257,892-98,257,990 PTCH1
    nsv4982628copy number variation1nstd200human GRCh38 chr9: 95,491,532-95,492,834 , GRCh37.p13 chr9: 98,253,814-98,255,116 PTCH1
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