A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550405



Internal ID15214342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21078783..21261951hg38UCSC Ensembl
Innerchr22:21433072..21616240hg19UCSC Ensembl
Innerchr22:19763072..19946240hg18UCSC Ensembl
Innerchr22:19757626..19940794hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38183169
hg19183169
hg18183169
hg16183169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471595
Supporting Variants
SamplesJK776
Known GenesBCRP2, FAM230B
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)nssv550405
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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