A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471613



Internal ID15561127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:24774666..24921080hg38UCSC Ensembl
InnerchrY:26920813..27067227hg19UCSC Ensembl
InnerchrY:25330201..25476615hg18UCSC Ensembl
InnerchrY:25765999..25923261hg16UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38146415
hg19146415
hg18146415
hg16157263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550499, nssv550500
SamplesNA16689, NA17014
Known GenesDAZ2, DAZ3, DAZ4
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)nsv471613
Frequency
Sample Size48
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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