A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471637



Internal ID15214456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47339291..47493663hg38UCSC Ensembl
Innerchr6:47307027..47461399hg19UCSC Ensembl
Innerchr6:47414986..47569358hg18UCSC Ensembl
Innerchr6:47353863..47508235hg16UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38154373
hg19154373
hg18154373
hg16154373
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549636, nssv549638, nssv549640, nssv549639, nssv549637
SamplesNA15732, JK776, NA17020, NA10979, NA10976
Known GenesCD2AP
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)nsv471637
Frequency
Sample Size48
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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