A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1451676



Internal ID16102280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:23416346..23569610hg38UCSC Ensembl
Outerchr15:23661493..23814757hg19UCSC Ensembl
Outerchr15:21212934..21365850hg18UCSC Ensembl
Outerchr15:21212934..21365850hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38153265
hg19153265
hg18152917
hg17152917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv832931
Supporting Variants
Samples
Known GenesMIR4508, MKRN3
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)nssv1451676
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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