A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471636



Internal ID15561150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26873305..27070396hg38UCSC Ensembl
Innerchr6:26841084..27038175hg19UCSC Ensembl
Innerchr6:26949063..27146154hg18UCSC Ensembl
Innerchr6:26949063..27146154hg16UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38197092
hg19197092
hg18197092
hg16197092
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549572, nssv549613, nssv549576, nssv549614, nssv549571, nssv650996, nssv549611, nssv549615, nssv549575, nssv549570, nssv549616, nssv549573, nssv549574, nssv549612
SamplesJK776, NA10496, NA15725, NA15726, NA10470, JK1058B, JK1061, NA17017, NA15729
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)nsv471636
Frequency
Sample Size48
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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