A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469857



Internal ID15534572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4050865..4240199hg38UCSC Ensembl
Innerchr4:4052592..4241926hg19UCSC Ensembl
Innerchr4:4103493..4292827hg18UCSC Ensembl
Innerchr4:4117134..4306468hg16UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38189335
hg19189335
hg18189335
hg16189335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675581
Samples
Known GenesOTOP1, TMEM128
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)nsv469857
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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