A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957505



Internal ID15904775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50347021hg38UCSC Ensembl
Innerchr22:50782167..50785450hg19UCSC Ensembl
Innerchr22:49129033..49132316hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589213
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)nssv957505
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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