A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469836



Internal ID15534551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2169689..2343278hg38UCSC Ensembl
Innerchr8:2117612..2292228hg19UCSC Ensembl
Innerchr8:2105019..2279635hg18UCSC Ensembl
Innerchr8:2105019..2279635hg16UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38173590
hg19174617
hg18174617
hg16174617
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675416, nssv1673695, nssv1676413
Samples
Known Genes
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)nsv469836
Frequency
Sample Size265
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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