A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv95n68



Internal ID22782335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133728580..133915151hg38UCSC Ensembl
chr9:136593702..136780273hg19UCSC Ensembl
chr9:135583523..135770094hg18UCSC Ensembl
chr9:133623256..133809827hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38186572
hg19186572
hg18186572
hg17186572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv831745, nsv831746
Samples
Known GenesSARDH, VAV2
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv95n68
Frequency
Sample Size95
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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