A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549960



Internal ID15559376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28555640..28719643hg38UCSC Ensembl
Innerchr15:28800786..28964789hg19UCSC Ensembl
Innerchr15:26599827..26763830hg18UCSC Ensembl
Innerchr15:26528591..26692594hg16UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38164004
hg19164004
hg18164004
hg16164004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471678
Supporting Variants
SamplesNA10970
Known GenesGOLGA8M, HERC2P9
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)nssv549960
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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