A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832763



Internal ID16109946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31032391..31210815hg38UCSC Ensembl
Outerchr14:31501597..31680021hg19UCSC Ensembl
Outerchr14:30571348..30749772hg18UCSC Ensembl
Outerchr14:30571348..30749772hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38178425
hg19178425
hg18178425
hg17178425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450914
Samples
Known GenesAP4S1, HECTD1
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)nsv832763
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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