A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451417



Internal ID229599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168515156..168516048hg38UCSC Ensembl
chr3:168232944..168233836hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941321
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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