A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709119



Internal ID132785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66940488..67029328hg38UCSC Ensembl
chr16:66974391..67063231hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3888841
hg1988841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532815
Supporting Variants
Samples
Known GenesCBFB, CES2, CES3, CES4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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