A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv93n68



Internal ID22782333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63185689..63411258hg38UCSC Ensembl
chr9:67090661..67366230hg19UCSC Ensembl
chr9:66830481..67056050hg18UCSC Ensembl
chr9:65660903..65886472hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38225570
hg19275570
hg18225570
hg17225570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv831594, nsv831595
Samples
Known GenesAQP7P1
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)dgv93n68
Frequency
Sample Size95
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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