A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469858



Internal ID15187887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47625963..47815620hg38UCSC Ensembl
Innerchr11:47647515..47837172hg19UCSC Ensembl
Innerchr11:47604091..47793748hg18UCSC Ensembl
Innerchr11:47611824..47801481hg16UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38189658
hg19189658
hg18189658
hg16189658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675427
Samples
Known GenesAGBL2, FNBP4, MTCH2, NUP160
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)nsv469858
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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