A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469782



Internal ID15187811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21894780..22068660hg38UCSC Ensembl
Innerchr22:22249118..22423071hg19UCSC Ensembl
Innerchr22:20579118..20753071hg18UCSC Ensembl
Innerchr22:20573672..20747625hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38173881
hg19173954
hg18173954
hg16173954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674229, nssv1675823
Samples
Known GenesPPM1F, TOP3B
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469782
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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