A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276335



Internal ID22198631
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228322
Supporting Variants
SamplesHG00732
Known GenesCDKN2AIPNL, LOC102546229
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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