A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2855n54



Internal ID22770750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109115044..109234244hg38UCSC Ensembl
chr12:109552849..109672049hg19UCSC Ensembl
chr12:108037232..108156432hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38119201
hg19119201
hg18119201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560116, nsv560117
SamplesNINDS_201
Known GenesACACB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2855n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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