A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941313



Internal ID28249
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 StatusS
Merged Variantsnsv5440375
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941313
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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