A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832748



Internal ID16109931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22515242..22630030hg38UCSC Ensembl
Outerchr14:22984224..23098935hg19UCSC Ensembl
Outerchr14:22054064..22168775hg18UCSC Ensembl
Outerchr14:22054064..22168775hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38114789
hg19114712
hg18114712
hg17114712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450897
Samples
Known GenesABHD4, DAD1
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)nsv832748
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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