A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8138n54



Internal ID20141562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50343738..50347021hg38UCSC Ensembl
chr22:50782167..50785450hg19UCSC Ensembl
chr22:49129033..49132316hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589211, nsv589212, nsv589213
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8138n54
Frequency
Sample Size17421
Observed Gain71
Observed Loss28
Observed Complex0
Frequencyn/a


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