A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443692



Internal ID222085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53894516..53894624hg38UCSC Ensembl
chr2:54121653..54121761hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913106
Samples
Known GenesPSME4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer