A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474473



Internal ID252132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26330771..26332534hg38UCSC Ensembl
chr8:26188287..26190050hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010006
Samples
Known GenesPPP2R2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474473
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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