A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957451



Internal ID15904721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50346868hg38UCSC Ensembl
Innerchr22:50782167..50785297hg19UCSC Ensembl
Innerchr22:49129033..49132163hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383131
hg193131
hg183131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589211
Supporting Variants
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv957451
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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