A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409942



Internal ID189262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168575904..168575955hg38UCSC Ensembl
chr3:168293692..168293743hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941325
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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