A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946930



Internal ID31976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14869838..14917144hg38UCSC Ensembl
chr4:14871462..14918768hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3847307
hg1947307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444239
Supporting Variants
Samples
Known GenesCPEB2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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