A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832182



Internal ID9423033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62528103..62695376hg38UCSC Ensembl
Outerchr11:62295575..62462848hg19UCSC Ensembl
Outerchr11:62052151..62219424hg18UCSC Ensembl
Outerchr11:62052151..62219424hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38167274
hg19167274
hg18167274
hg17167274
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449282, nssv1449281, nssv1449284
Samples
Known GenesAHNAK, B3GAT3, BSCL2, C11orf48, C11orf83, EEF1G, EML3, GANAB, HNRNPUL2-BSCL2, INTS5, LOC102288414, LRRN4CL, METTL12, MIR3654, MIR6747, MTA2, ROM1, SNORA57, TUT1, UBXN1
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)nsv832182
Frequency
Sample Size95
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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