A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929982



Internal ID20725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4977918..5188644hg38UCSC Ensembl
chr3:5019603..5230329hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38210727
hg19210727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441779
Supporting Variants
Samples
Known GenesARL8B, BHLHE40, EDEM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929982
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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