A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469651



Internal ID15534366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131260096..131428079hg38UCSC Ensembl
Innerchr12:131744641..131912624hg19UCSC Ensembl
Innerchr12:130310594..130478577hg18UCSC Ensembl
Innerchr12:130097740..130265723hg16UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38167984
hg19167984
hg18167984
hg16167984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n29
Supporting Variantsnssv1676662
Samples
Known GenesLOC338797
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)nsv469651
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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