A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697175



Internal ID120841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90134359..90145843hg38UCSC Ensembl
chr14:90600703..90612187hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3811485
hg1911485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502922
Supporting Variants
Samples
Known GenesKCNK13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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