A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833001



Internal ID16110184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48751446..48912568hg38UCSC Ensembl
Outerchr15:49043643..49204765hg19UCSC Ensembl
Outerchr15:46830935..46992057hg18UCSC Ensembl
Outerchr15:46830935..46992057hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38161123
hg19161123
hg18161123
hg17161123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451944, nssv1451943
Samples
Known GenesCEP152, EID1, SHC4
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)nsv833001
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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