A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259834



Internal ID22119058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24108040..24125830hg38UCSC Ensembl
Outerchr16:24119361..24137151hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238581
Supporting Variants
SamplesHG00512
Known GenesPRKCB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259834
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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