A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469833



Internal ID15187862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:447851..614798hg38UCSC Ensembl
Innerchr20:428495..595442hg19UCSC Ensembl
Innerchr20:376495..543442hg18UCSC Ensembl
Innerchr20:423495..590442hg16UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38166948
hg19166948
hg18166948
hg16166948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673904, nssv1672164, nssv1675313, nssv1676380, nssv1676100, nssv1672312, nssv1673007, nssv1673734
Samples
Known GenesCSNK2A1, TBC1D20, TCF15
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)nsv469833
Frequency
Sample Size265
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer