A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018656



Internal ID80077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132467253..132467304hg38UCSC Ensembl
chr8:133479500..133479551hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397900
Supporting Variants
Samples
Known GenesKCNQ3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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