A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941309



Internal ID28246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168385498..168385792hg38UCSC Ensembl
chr3:168103286..168103580hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439953
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00359


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