A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970084



Internal ID47381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132724453..132724575hg38UCSC Ensembl
chr6:133045592..133045714hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462215
Supporting Variants
Samples
Known GenesVNN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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