A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832255



Internal ID16109438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:104804191..104976234hg38UCSC Ensembl
Outerchr11:104674918..104846961hg19UCSC Ensembl
Outerchr11:104180128..104352171hg18UCSC Ensembl
Outerchr11:104180128..104352171hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38172044
hg19172044
hg18172044
hg17172044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449455
Samples
Known GenesCASP12, CASP4, LOC643733
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)nsv832255
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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