A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957492



Internal ID15904762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50346946hg38UCSC Ensembl
Innerchr22:50782167..50785375hg19UCSC Ensembl
Innerchr22:49129033..49132241hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383209
hg193209
hg183209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589212
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)nssv957492
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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