A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469818



Internal ID15187847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22112125..22262126hg38UCSC Ensembl
Innerchr16:22123446..22273447hg19UCSC Ensembl
Innerchr16:22030947..22180948hg18UCSC Ensembl
Innerchr16:22089999..22240000hg16UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38150002
hg19150002
hg18150002
hg16150002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673399
Samples
Known GenesEEF2K, VWA3A
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)nsv469818
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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