A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471654



Internal ID15561168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39445501..39548632hg38UCSC Ensembl
Innerchr9:41574132..41693650hg19UCSC Ensembl
Innerchr9:41564132..41683650hg18UCSC Ensembl
Innerchr9:40465771..40585289hg16UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38103132
hg19119519
hg18119519
hg16119519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548848
SamplesNA15732
Known GenesLOC653501, ZNF658B
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)nsv471654
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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