A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446519



Internal ID224842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73051487..73052585hg38UCSC Ensembl
chr3:73100638..73101736hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934117
Samples
Known GenesPPP4R2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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