A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832888



Internal ID16456757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105251002..105377572hg38UCSC Ensembl
Outerchr14:105717339..105843909hg19UCSC Ensembl
Outerchr14:104788384..104914954hg18UCSC Ensembl
Outerchr14:104788384..104914954hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38126571
hg19126571
hg18126571
hg17126571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26n68
Supporting Variantsnssv1451174
Samples
Known GenesBRF1, BTBD6, PACS2
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)nsv832888
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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