A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469654



Internal ID15534369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63209629..63371983hg38UCSC Ensembl
Innerchr13:63783762..63946116hg19UCSC Ensembl
Innerchr13:62681763..62844117hg18UCSC Ensembl
Innerchr13:61581763..61744117hg16UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38162355
hg19162355
hg18162355
hg16162355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674838, nssv1672928
Samples
Known Genes
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)nsv469654
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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