A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469800



Internal ID15534515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4312311..4453111hg38UCSC Ensembl
Innerchr11:4333541..4474341hg19UCSC Ensembl
Innerchr11:4290117..4430917hg18UCSC Ensembl
Innerchr11:4297850..4438650hg16UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38140801
hg19140801
hg18140801
hg16140801
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672893, nssv1674050, nssv1674022, nssv1676104, nssv1676256
Samples
Known GenesOR52B4, OR52K2, TRIM21
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)nsv469800
Frequency
Sample Size265
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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