A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589216



Internal ID16376625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50347215hg38UCSC Ensembl
Innerchr22:50782167..50785644hg19UCSC Ensembl
Innerchr22:49129033..49132510hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383478
hg193478
hg183478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8139n54
Supporting Variantsnssv957533
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589216
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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