A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228322



Internal ID22370545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134411366..134432651hg38UCSC Ensembl
Outerchr5:133747057..133768342hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276335
SamplesHG00732
Known GenesCDKN2AIPNL, LOC102546229
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228322
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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