A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7927n54



Internal ID22775822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46237682..46238705hg38UCSC Ensembl
chr21:47657596..47658619hg19UCSC Ensembl
chr21:46482024..46483047hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381024
hg191024
hg181024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587972, nsv587970
Samples
Known GenesMCM3AP, MCM3AP-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7927n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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