A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549686



Internal ID15213750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21486586..21628623hg38UCSC Ensembl
InnerchrY:23648472..23790509hg19UCSC Ensembl
InnerchrY:22057860..22199897hg18UCSC Ensembl
InnerchrY:22493656..22635693hg16UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38142038
hg19142038
hg18142038
hg16142038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471611
Supporting Variants
SamplesNA17016
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E, TTTY13
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)nssv549686
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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