A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549504



Internal ID15212223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196827347..196986100hg38UCSC Ensembl
Innerchr1:196796477..196955230hg19UCSC Ensembl
Innerchr1:195063100..195221853hg18UCSC Ensembl
Innerchr1:194084736..194243489hg16UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38158754
hg19158754
hg18158754
hg16158754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471614
Supporting Variants
SamplesNA10472
Known GenesCFHR1, CFHR2, CFHR4, CFHR5
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)nssv549504
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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