A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832055



Internal ID16109238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:4529664..4715110hg38UCSC Ensembl
Outerchr11:4550894..4736340hg19UCSC Ensembl
Outerchr11:4507470..4692916hg18UCSC Ensembl
Outerchr11:4507470..4692916hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38185447
hg19185447
hg18185447
hg17185447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449005, nssv1449004
Samples
Known GenesC11orf40, OR51D1, OR51E1, OR51E2, OR52I1, OR52I2, OR52M1, TRIM68
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)nsv832055
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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