A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549218



Internal ID15560740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56714611..56897793hg38UCSC Ensembl
Innerchr7:56782304..56965485hg19UCSC Ensembl
Innerchr7:56749798..56932979hg18UCSC Ensembl
Innerchr7:56524053..56707234hg16UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38183183
hg19183182
hg18183182
hg16183182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471639
Supporting Variants
SamplesNA17059
Known GenesLOC100130849
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)nssv549218
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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