A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48n68



Internal ID22782288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8779512..8864814hg38UCSC Ensembl
chr19:8890188..8975490hg19UCSC Ensembl
chr19:8751188..8836490hg18UCSC Ensembl
chr19:8751188..8836490hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3885303
hg1985303
hg1885303
hg1785303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833741, nsv833740
Samples
Known GenesMBD3L1, MUC16, ZNF558
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv48n68
Frequency
Sample Size95
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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