A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698479



Internal ID122145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104592310..104592388hg38UCSC Ensembl
chr14:105058647..105058725hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507065
Supporting Variants
Samples
Known GenesTMEM179
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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