A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469826



Internal ID15534541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21441987..21612502hg38UCSC Ensembl
Innerchr5:21442096..21612611hg19UCSC Ensembl
Innerchr5:21477853..21648368hg18UCSC Ensembl
Innerchr5:21487597..21658112hg16UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38170516
hg19170516
hg18170516
hg16170516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n29
Supporting Variantsnssv1675595, nssv1675738
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)nsv469826
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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