A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469684



Internal ID15187713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40971215..41124330hg38UCSC Ensembl
Innerchr9:69044444..69197559hg19UCSC Ensembl
Innerchr9:68334264..68487379hg18UCSC Ensembl
Innerchr9:65370528..65523634hg16UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38153116
hg19153116
hg18153116
hg16153107
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673821, nssv1674612
Samples
Known GenesLOC440896, PGM5P2
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)nsv469684
Frequency
Sample Size265
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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