A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8128n54



Internal ID20141552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48497621..48499962hg38UCSC Ensembl
chr22:48893433..48895774hg19UCSC Ensembl
chr22:47272097..47274438hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382342
hg192342
hg182342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589161, nsv589158
Samples
Known GenesFAM19A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8128n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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