A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469538



Internal ID15187567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150208..266971hg38UCSC Ensembl
Innerchr17:1..116762hg19UCSC Ensembl
Innerchr17:1..116762hg18UCSC Ensembl
Innerchr17:37999..154762hg16UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38116764
hg19116762
hg18116762
hg16116764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673701
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
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)nsv469538
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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