A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970086



Internal ID47383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132742838..132754927hg38UCSC Ensembl
chr6:133063977..133076066hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3812090
hg1912090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471965
Supporting Variants
Samples
Known GenesVNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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