A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471635



Internal ID15214454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26643565..26848188hg38UCSC Ensembl
Innerchr6:26643793..26815967hg19UCSC Ensembl
Innerchr6:26751772..26923946hg18UCSC Ensembl
Innerchr6:26751772..26923946hg16UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38204624
hg19172175
hg18172175
hg16172175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550251, nssv550247, nssv550250, nssv550246, nssv550249, nssv550252, nssv550248
SamplesNA15732, NA17015, NA10492, NA17020, NA10470, NA17016, NA17017
Known GenesZNF322
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)nsv471635
Frequency
Sample Size48
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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