A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440834



Internal ID219332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180008180..180008269hg38UCSC Ensembl
chr3:179725968..179726057hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943676
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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