A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7n29



Internal ID22767695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:609831..820394hg38UCSC Ensembl
chr5:609946..820509hg19UCSC Ensembl
chr5:662946..873509hg18UCSC Ensembl
chr5:662684..873247hg16UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38210564
hg19210564
hg18210564
hg16210564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469572, nsv469551, nsv469866
Samples
Known GenesCEP72, LOC100996325, TPPP, ZDHHC11
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)dgv7n29
Frequency
Sample Size265
Observed Gain248
Observed Loss0
Observed Complex0
Frequencyn/a


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