A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471685



Internal ID15214504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:80530860..80711048hg38UCSC Ensembl
Innerchr15:80823201..81003389hg19UCSC Ensembl
Innerchr15:78610256..78790444hg18UCSC Ensembl
Innerchr15:78539020..78719208hg16UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38180189
hg19180189
hg18180189
hg16180189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549896
SamplesNA10493
Known GenesABHD17C, ARNT2
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nsv471685
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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