A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471686



Internal ID15214505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82420179..82538962hg38UCSC Ensembl
Innerchr15:83088909..83207713hg19UCSC Ensembl
Innerchr15:80885964..81004768hg18UCSC Ensembl
Innerchr15:80814728..80933532hg16UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38118784
hg19118805
hg18118805
hg16118805
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550156, nssv550157, nssv550155, nssv550158
SamplesNA11521, NA11523, NA10969, NA10493
Known GenesCSPG4P8, GOLGA6L20, GOLGA6L9, LOC727751, LOC80154, RPS17, RPS17L
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)nsv471686
Frequency
Sample Size48
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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