A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440375



Internal ID218884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168405293..168406917hg38UCSC Ensembl
chr3:168123081..168124705hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941313
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440375
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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