A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549574



Internal ID15560489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26873305..27031451hg38UCSC Ensembl
Innerchr6:26841084..26999230hg19UCSC Ensembl
Innerchr6:26949063..27107209hg18UCSC Ensembl
Innerchr6:26949063..27107209hg16UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38158147
hg19158147
hg18158147
hg16158147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471636
Supporting Variants
SamplesNA17017
Known GenesGUSBP2, LINC00240, LOC100270746
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)nssv549574
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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