A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7511n54



Internal ID22775406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19924061..19924613hg38UCSC Ensembl
chr20:19904705..19905257hg19UCSC Ensembl
chr20:19852705..19853257hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38553
hg19553
hg18553
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585683, nsv585686, nsv585682
Samples
Known GenesRIN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7511n54
Frequency
Sample Size17421
Observed Gain109
Observed Loss38
Observed Complex0
Frequencyn/a


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