A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957531



Internal ID16251487
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 StatusS
Merged Variantsnsv589214
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)nssv957531
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer