A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707145



Internal ID130811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69815175..69824788hg38UCSC Ensembl
chr16:69849078..69858691hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389614
hg199614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525266
Supporting Variants
Samples
Known GenesWWP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004997


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