A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832128



Internal ID16455997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:40532124..40664188hg38UCSC Ensembl
Outerchr11:40553674..40685738hg19UCSC Ensembl
Outerchr11:40510250..40642314hg18UCSC Ensembl
Outerchr11:40510250..40642314hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38132065
hg19132065
hg18132065
hg17132065
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449127, nssv1449130, nssv1449129
Samples
Known GenesLRRC4C
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)nsv832128
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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