A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549713



Internal ID15558801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322917..9438165hg38UCSC Ensembl
Innerchr4:9324643..9439891hg19UCSC Ensembl
Innerchr4:8933741..9048989hg18UCSC Ensembl
Innerchr4:9041260..9190774hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38115249
hg19115249
hg18115249
hg16149515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471623
Supporting Variants
SamplesNA10470
Known GenesUSP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nssv549713
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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