A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549472



Internal ID15213975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106579606..106732016hg38UCSC Ensembl
Innerchr2:107196062..107348472hg19UCSC Ensembl
Innerchr2:106562494..106714904hg18UCSC Ensembl
Innerchr2:106817462..106969872hg16UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38152411
hg19152411
hg18152411
hg16152411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471617
Supporting Variants
SamplesNA17052
Known Genes
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)nssv549472
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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