A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700598



Internal ID124264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105353723..105353882hg38UCSC Ensembl
chr14:105820060..105820219hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502971
Supporting Variants
Samples
Known GenesPACS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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