A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469598



Internal ID15187627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18650989..18828668hg38UCSC Ensembl
Innerchr16:18662311..18839990hg19UCSC Ensembl
Innerchr16:18569812..18747491hg18UCSC Ensembl
Innerchr16:18628864..18806543hg16UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38177680
hg19177680
hg18177680
hg16177680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672732
Samples
Known GenesARL6IP1, RPS15A, SMG1
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)nsv469598
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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