A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471671



Internal ID15214490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58963313..59120166hg38UCSC Ensembl
Innerchr11:58730786..58887639hg19UCSC Ensembl
Innerchr11:58487362..58644215hg18UCSC Ensembl
Innerchr11:58506146..58662999hg16UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38156854
hg19156854
hg18156854
hg16156854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549242, nssv549244, nssv549243
SamplesNA10979, NA17016, NA11776
Known GenesFAM111B, LOC283194
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)nsv471671
Frequency
Sample Size48
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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