A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469711



Internal ID6055701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6211747..6386097hg19UCSC Ensembl
Innerchr4:6262648..6436998hg18UCSC Ensembl
Innerchr4:6329819..6504169hg17UCSC Ensembl
Innerchr4:6276289..6450639hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv649732
Samples
Known GenesLOC285484, PPP2R2C, WFS1
Method
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.
PlatformEichler Segmental Duplication BAC array
Comments
ReferenceLocke et al 2006
Pubmed ID16826518
Accession Number(s)nsv469711
Frequency
Sample Size265
Observed Gain0
Observed Loss30
Observed Complexn/a
Frequencyn/a


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