A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550556



Internal ID15212322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7978219..8130052hg38UCSC Ensembl
Innerchr8:7835741..7987574hg19UCSC Ensembl
Innerchr8:7873151..8024984hg18UCSC Ensembl
Innerchr8:7873151..8024984hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38151834
hg19151834
hg18151834
hg16151834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471651
Supporting Variants
SamplesNA10492
Known GenesDEFB109P1B, FAM66E, MIR548I3
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)nssv550556
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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