A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925808



Internal ID17953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575245..232575298hg38UCSC Ensembl
chr2:233439955..233440008hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139424
Supporting Variants
Samples
Known GenesEIF4E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.227077


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