A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452370



Internal ID230525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196961211..196961344hg38UCSC Ensembl
chr3:196688082..196688215hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16946020
Samples
Known GenesPIGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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