A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550262



Internal ID15213400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35502542..35687194hg38UCSC Ensembl
Innerchr7:35542152..35726804hg19UCSC Ensembl
Innerchr7:35508677..35693329hg18UCSC Ensembl
Innerchr7:35284334..35468033hg16UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38184653
hg19184653
hg18184653
hg16183700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv471638
Supporting Variants
SamplesNA15731
Known GenesHERPUD2
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)nssv550262
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer