A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471592



Internal ID15561106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121250141..121390205hg38UCSC Ensembl
Innerchr1:141751323..141891622hg16UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38140065
hg16140300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550369, nssv550370, nssv550368, nssv550371
SamplesJK1688B, JK1061, NA10494, NA10493
Known Genes
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)nsv471592
Frequency
Sample Size48
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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