A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469686



Internal ID15534401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131260094..131421320hg38UCSC Ensembl
Innerchr12:131744639..131905865hg19UCSC Ensembl
Innerchr12:130310592..130471818hg18UCSC Ensembl
Innerchr12:130097738..130258964hg16UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38161227
hg19161227
hg18161227
hg16161227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n29
Supporting Variantsnssv1674897, nssv1672977
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)nsv469686
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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