A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469634



Internal ID15187663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21590297..21756510hg38UCSC Ensembl
Innerchr16:21601618..21767831hg19UCSC Ensembl
Innerchr16:21509119..21675332hg18UCSC Ensembl
Innerchr16:21568171..21734384hg16UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38166214
hg19166214
hg18166214
hg16166214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3n29
Supporting Variantsnssv1673020
Samples
Known GenesIGSF6, METTL9, OTOA
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)nsv469634
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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