A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550532



Internal ID15560072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241975914..242129809hg38UCSC Ensembl
Innerchr2:242918065..243071960hg19UCSC Ensembl
Innerchr2:242566738..242720633hg18UCSC Ensembl
Innerchr2:243234567..243388462hg16UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38153896
hg19153896
hg18153896
hg16153896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471619
Supporting Variants
SamplesNA15730
Known GenesLOC728323
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)nssv550532
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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