A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589217



Internal ID16376626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343738..50353791hg38UCSC Ensembl
Innerchr22:50782167..50792220hg19UCSC Ensembl
Innerchr22:49129033..49139086hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3810054
hg1910054
hg1810054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957534
Samples
Known GenesPPP6R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589217
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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