A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469821



Internal ID15534536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21448386..21614116hg38UCSC Ensembl
Innerchr5:21448495..21614225hg19UCSC Ensembl
Innerchr5:21484252..21649982hg18UCSC Ensembl
Innerchr5:21493996..21659726hg16UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38165731
hg19165731
hg18165731
hg16165731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n29
Supporting Variantsnssv1674589
Samples
Known GenesGUSBP1
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)nsv469821
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer