A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469749



Internal ID15187778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22201204..22368563hg38UCSC Ensembl
Innerchr22:22555598..22722931hg19UCSC Ensembl
Innerchr22:20885598..21052931hg18UCSC Ensembl
Innerchr22:20880152..21047485hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38167360
hg19167334
hg18167334
hg16167334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676491, nssv1676365
Samples
Known GenesBMS1P20, VPREB1
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)nsv469749
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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