A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n29



Internal ID22767696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21441987..21614116hg38UCSC Ensembl
chr5:21442096..21614225hg19UCSC Ensembl
chr5:21477853..21649982hg18UCSC Ensembl
chr5:21487597..21659726hg16UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38172130
hg19172130
hg18172130
hg16172130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469826, nsv469821, nsv469672
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)dgv8n29
Frequency
Sample Size265
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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