A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550534



Internal ID15214036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149871100..150047242hg38UCSC Ensembl
Innerchr7:149568189..149744331hg19UCSC Ensembl
Innerchr7:149199122..149375264hg18UCSC Ensembl
Innerchr7:148959930..149136072hg16UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38176143
hg19176143
hg18176143
hg16176143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471647
Supporting Variants
SamplesNA17058
Known GenesATP6V0E2, ATP6V0E2-AS1
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)nssv550534
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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