A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv35n68



Internal ID20147804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30833730..31036730hg38UCSC Ensembl
chr16:30845051..31048051hg19UCSC Ensembl
chr16:30752552..30955552hg18UCSC Ensembl
chr16:30752552..30955552hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38203001
hg19203001
hg18203001
hg17203001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833190, nsv833191
Samples
Known GenesBCL7C, CTF1, FBXL19, FBXL19-AS1, HSD3B7, MIR4519, MIR762, ORAI3, SETD1A, STX1B, STX4
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)dgv35n68
Frequency
Sample Size95
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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