A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7457n54



Internal ID22775352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8115483..8595024hg38UCSC Ensembl
chr20:8096130..8575671hg19UCSC Ensembl
chr20:8044130..8523671hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38479542
hg19479542
hg18479542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585390, nsv585391
SamplesNINDS_129
Known GenesPLCB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7457n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer