A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv36n68



Internal ID20147805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87801736..87983550hg38UCSC Ensembl
chr16:87835342..88017156hg19UCSC Ensembl
chr16:86392843..86574657hg18UCSC Ensembl
chr16:86392843..86574657hg17UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38181815
hg19181815
hg18181815
hg17181815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833323, nsv833324
Samples
Known GenesBANP, CA5A, MIR6775, SLC7A5
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)dgv36n68
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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