A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv551110



Internal ID15214192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47976493..48173545hg38UCSC Ensembl
InnerchrX:47835892..48032973hg19UCSC Ensembl
InnerchrX:47720836..47917917hg18UCSC Ensembl
InnerchrX:46881874..47078955hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38197053
hg19197082
hg18197082
hg16197082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471601
Supporting Variants
SamplesJK1058B
Known GenesSPACA5, SPACA5B, SSX6, ZNF182, ZNF630
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)nssv551110
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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