A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439394



Internal ID217932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133382795..133382949hg38UCSC Ensembl
chr3:133101639..133101793hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937752
Samples
Known GenesTMEM108
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439394
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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