A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469767



Internal ID15534482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:21279803..21486884hg38UCSC Ensembl
Innerchr8:21137314..21344395hg19UCSC Ensembl
Innerchr8:21181594..21388675hg18UCSC Ensembl
Innerchr8:21147587..21354668hg16UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38207082
hg19207082
hg18207082
hg16207082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672477, nssv1674376, nssv1672879, nssv1676090, nssv1674796, nssv1675666
Samples
Known GenesLOC101929172
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)nsv469767
Frequency
Sample Size265
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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