A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234612



Internal ID22373083
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259204, nssv14259203
SamplesNA19238, HG00513
Known GenesHS3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234612
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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