A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469831



Internal ID15187860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196344732..196508354hg38UCSC Ensembl
Innerchr3:196071603..196235225hg19UCSC Ensembl
Innerchr3:197556000..197719622hg18UCSC Ensembl
Innerchr3:197398124..197561746hg16UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38163623
hg19163623
hg18163623
hg16163623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675340
Samples
Known GenesC3orf43, RNF168, UBXN7
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)nsv469831
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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