A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832666



Internal ID16456535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:84454047..84619661hg38UCSC Ensembl
Outerchr13:85028182..85193796hg19UCSC Ensembl
Outerchr13:83926183..84091797hg18UCSC Ensembl
Outerchr13:83926183..84091797hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38165615
hg19165615
hg18165615
hg17165615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450384, nssv1450399, nssv1450403, nssv1450404, nssv1450391, nssv1450388, nssv1450390, nssv1450389, nssv1450395, nssv1450382, nssv1450385, nssv1450402, nssv1450408, nssv1450397, nssv1450387, nssv1450401, nssv1450400, nssv1450393, nssv1450409, nssv1450398, nssv1450381, nssv1450396, nssv1450386, nssv1450392
Samples
Known GenesLINC00333
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)nsv832666
Frequency
Sample Size95
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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