A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550438



Internal ID15213914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27981..177346hg38UCSC Ensembl
Innerchr1:27981..177346hg19UCSC Ensembl
Innerchr1:17844..167209hg18UCSC Ensembl
Innerchr1:17844..167209hg16UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38149366
hg19149366
hg18149366
hg16149366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471591
Supporting Variants
SamplesNA17051
Known GenesFAM138A, FAM138F, LOC729737, OR4F5, WASH7P
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)nssv550438
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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