A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550689



Internal ID15214313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196700381..196847241hg38UCSC Ensembl
Innerchr1:196669511..196816371hg19UCSC Ensembl
Innerchr1:194936134..195082994hg18UCSC Ensembl
Innerchr1:193957770..194104630hg16UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38146861
hg19146861
hg18146861
hg16146861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471614
Supporting Variants
SamplesJK776
Known GenesCFH, CFHR1, CFHR3
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)nssv550689
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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