A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv650978



Internal ID15560433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9399212..9592435hg38UCSC Ensembl
Innerchr4:9400938..9594059hg19UCSC Ensembl
Innerchr4:9010036..9203157hg18UCSC Ensembl
Innerchr4:9151821..9344942hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38193224
hg19193122
hg18193122
hg16193122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471623
Supporting Variants
SamplesNA17016
Known GenesDEFB131, LOC650293, MIR548I2
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
CommentsFISH results consistent with presence of CNP
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nssv650978
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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