A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7920n54



Internal ID22775815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45991017..45999098hg38UCSC Ensembl
chr21:47410931..47419012hg19UCSC Ensembl
chr21:46235359..46243440hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388082
hg198082
hg188082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587938, nsv587937, nsv587936
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7920n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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