A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271794



Internal ID22281838
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224970
Supporting Variants
SamplesNA19239
Known GenesBRK1, VHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271794
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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