A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589214



Internal ID16376623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50347097hg38UCSC Ensembl
Innerchr22:50782167..50785526hg19UCSC Ensembl
Innerchr22:49129033..49132392hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383360
hg193360
hg183360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8139n54
Supporting Variantsnssv957531, nssv957530
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589214
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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