A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469566



Internal ID15534281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19402191..19558678hg38UCSC Ensembl
Innerchr13:19976331..20132818hg19UCSC Ensembl
Innerchr13:18874331..19030818hg18UCSC Ensembl
Innerchr13:17774331..17930818hg16UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38156488
hg19156488
hg18156488
hg16156488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672080
Samples
Known GenesTPTE2
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)nsv469566
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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