A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693601



Internal ID117267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32389112..32389163hg38UCSC Ensembl
chr14:32858318..32858369hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422296
Supporting Variants
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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