A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941303



Internal ID28240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168275593..168275610hg38UCSC Ensembl
chr3:167993381..167993398hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558278
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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