A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548959



Internal ID15212566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46002113..46163353hg38UCSC Ensembl
Innerchr17:44079479..44240719hg19UCSC Ensembl
Innerchr17:41435316..41596496hg18UCSC Ensembl
Innerchr17:44554955..44716135hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38161241
hg19161241
hg18161181
hg16161181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471698
Supporting Variants
SamplesNA10967
Known GenesKANSL1, MAPT
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)nssv548959
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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