A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471648



Internal ID15561162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:153783566..154061146hg38UCSC Ensembl
Innerchr7:153480651..153758231hg19UCSC Ensembl
Innerchr7:153111584..153389164hg18UCSC Ensembl
Innerchr7:152872391..153149971hg16UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38277581
hg19277581
hg18277581
hg16277581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548948, nssv550237, nssv550238, nssv548947, nssv550236
SamplesNA17058, NA17015, NA10492
Known GenesDPP6
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)nsv471648
Frequency
Sample Size48
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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