A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469895



Internal ID6055647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17368270..17584220hg19UCSC Ensembl
Innerchr11:17324846..17540796hg18UCSC Ensembl
Innerchr11:17324846..17540796hg17UCSC Ensembl
Innerchr11:17332579..17548529hg16UCSC Ensembl
Cytoband11p15.1
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 Variantsnssv649916
Samples
Known GenesABCC8, B7H6, KCNJ11, USH1C
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)nsv469895
Frequency
Sample Size265
Observed Gain0
Observed Loss25
Observed Complexn/a
Frequencyn/a


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