A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471683



Internal ID15214502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:42042177..42210784hg38UCSC Ensembl
Innerchr15:42334375..42502982hg19UCSC Ensembl
Innerchr15:40121667..40290274hg18UCSC Ensembl
Innerchr15:40050431..40219038hg16UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38168608
hg19168608
hg18168608
hg16168608
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549632, nssv549633
SamplesNA15729, NA10493
Known GenesMIR627, PLA2G4D, PLA2G4E, PLA2G4F, TMEM87A, VPS39
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)nsv471683
Frequency
Sample Size48
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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