A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548937



Internal ID15559379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41629654..41736085hg38UCSC Ensembl
Innerchr9:46298864..46405393hg19UCSC Ensembl
Innerchr9:46188860..46295389hg18UCSC Ensembl
Innerchr9:43564562..43671091hg16UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38106432
hg19106530
hg18106530
hg16106530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471659
Supporting Variants
SamplesNA10970
Known GenesFAM27E1
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)nssv548937
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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