A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832047



Internal ID16109230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1363751..1500210hg38UCSC Ensembl
Outerchr11:1384981..1521440hg19UCSC Ensembl
Outerchr11:1341557..1478016hg18UCSC Ensembl
Outerchr11:1341557..1478016hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38136460
hg19136460
hg18136460
hg17136460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n68
Supporting Variantsnssv1448977, nssv1448979, nssv1448972, nssv1448976, nssv1448975, nssv1448974, nssv1448980, nssv1448978
Samples
Known GenesBRSK2, MOB2
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)nsv832047
Frequency
Sample Size95
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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