A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8139n54



Internal ID22776034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50343738..50347215hg38UCSC Ensembl
chr22:50782167..50785644hg19UCSC Ensembl
chr22:49129033..49132510hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383478
hg193478
hg183478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589214, nsv589219, nsv589216, nsv589218
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8139n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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