A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471667



Internal ID15214486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46173041..46325342hg38UCSC Ensembl
Innerchr10:47544277..47696578hg19UCSC Ensembl
Innerchr10:47014283..47166584hg18UCSC Ensembl
Innerchr10:46859267..47011568hg16UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38152302
hg19152302
hg18152302
hg16152302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549952, nssv549951
SamplesNA10473, NA10493
Known GenesANTXRL, ANTXRLP1
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)nsv471667
Frequency
Sample Size48
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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