A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549355



Internal ID15559219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135720375..135945271hg38UCSC Ensembl
InnerchrX:134867459..135027430hg19UCSC Ensembl
InnerchrX:134695125..134855096hg18UCSC Ensembl
InnerchrX:133573066..133733037hg16UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38224897
hg19159972
hg18159972
hg16159972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv471605
Supporting Variants
SamplesNA10496
Known GenesCT45A2, CT45A3, CT45A4, CT45A5, CT45A6, SAGE1
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)nssv549355
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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