A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469534



Internal ID15187563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47782286..47951587hg38UCSC Ensembl
Innerchr20:46411030..46580331hg19UCSC Ensembl
Innerchr20:45844437..46013738hg18UCSC Ensembl
Innerchr20:47096452..47265753hg16UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38169302
hg19169302
hg18169302
hg16169302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676284, nssv1673180
Samples
Known GenesSULF2
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)nsv469534
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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