A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832184



Internal ID16109367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64020230..64157612hg38UCSC Ensembl
Outerchr11:63787702..63925084hg19UCSC Ensembl
Outerchr11:63544278..63681660hg18UCSC Ensembl
Outerchr11:63544278..63681660hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38137383
hg19137383
hg18137383
hg17137383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15n68
Supporting Variantsnssv1449287, nssv1449291, nssv1449292, nssv1449288, nssv1449290, nssv1449289
Samples
Known GenesFLRT1, MACROD1
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)nsv832184
Frequency
Sample Size95
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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