A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469712



Internal ID15534427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:21535301..21703612hg38UCSC Ensembl
Innerchr11:21556847..21725158hg19UCSC Ensembl
Innerchr11:21513423..21681734hg18UCSC Ensembl
Innerchr11:21521156..21689467hg16UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38168312
hg19168312
hg18168312
hg16168312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672464, nssv1676605, nssv1672243
Samples
Known GenesNELL1
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)nsv469712
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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