A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820090



Internal ID15584791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50344544..50345584hg38UCSC Ensembl
Innerchr22:50782973..50784013hg19UCSC Ensembl
Innerchr22:49129839..49130879hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381041
hg191041
hg181041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418856
SamplesAK1
Known GenesPPP6R2
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL6985
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv820090
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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