A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259204



Internal ID22267222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:22812001..22820619hg38UCSC Ensembl
Outerchr16:22823322..22831940hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234612
Supporting Variants
SamplesNA19238
Known GenesHS3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259204
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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