A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549492



Internal ID15213552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141558014..141726425hg38UCSC Ensembl
InnerchrX:140646083..140814609hg19UCSC Ensembl
InnerchrX:140473749..140642275hg18UCSC Ensembl
InnerchrX:139339685..139508211hg16UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38168412
hg19168527
hg18168527
hg16168527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471606
Supporting Variants
SamplesNA16688
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE
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)nssv549492
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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