A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471649



Internal ID15561163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2169690..2590834hg38UCSC Ensembl
Innerchr8:2117613..2447925hg19UCSC Ensembl
Innerchr8:2105020..2435332hg18UCSC Ensembl
Innerchr8:2105020..2435332hg16UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38421145
hg19330313
hg18330313
hg16330313
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549927, nssv550823, nssv549916, nssv549920, nssv549923, nssv549925, nssv549921, nssv549922, nssv549924, nssv549926, nssv549917, nssv549919, nssv549928, nssv549918
SamplesNA10971, NA17058, NA17015, NA17020, NA15724, NA17016, NA10967, NA17017, NA17051, NA17014, NA10493, NA10970, NA11323
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)nsv471649
Frequency
Sample Size48
Observed Gain11
Observed Loss2
Observed Complex0
Frequencyn/a


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