A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv551071



Internal ID15559158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:640445..820394hg38UCSC Ensembl
Innerchr5:640560..820509hg19UCSC Ensembl
Innerchr5:693560..873509hg18UCSC Ensembl
Innerchr5:693298..873247hg16UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38179950
hg19179950
hg18179950
hg16179950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471627
Supporting Variants
SamplesNA10495
Known GenesCEP72, TPPP, ZDHHC11
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)nssv551071
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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