A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833264



Internal ID16110447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66298692..66471069hg38UCSC Ensembl
Outerchr16:66332595..66504972hg19UCSC Ensembl
Outerchr16:64890096..65062473hg18UCSC Ensembl
Outerchr16:64890096..65062473hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38172378
hg19172378
hg18172378
hg17172378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452823, nssv1452826, nssv1452828, nssv1452825, nssv1452824, nssv1452827
Samples
Known GenesBEAN1, CDH5, LINC00920
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)nsv833264
Frequency
Sample Size95
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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