A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941317



Internal ID28252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168472517..168477542hg38UCSC Ensembl
chr3:168190305..168195330hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg385026
hg195026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443327
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941317
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000469


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