A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707479



Internal ID131145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67096691..67097311hg38UCSC Ensembl
chr16:67130594..67131214hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521825
Supporting Variants
Samples
Known GenesCBFB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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