A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418856



Internal ID15582640
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820090
Supporting Variants
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)nssv1418856
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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