A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224970



Internal ID22368245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10112148..10142880hg38UCSC Ensembl
Outerchr3:10153832..10184564hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5868n152
Supporting Variantsnssv14271794
SamplesNA19239
Known GenesBRK1, VHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224970
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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