A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5884n223



Internal ID22808852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109781511..110311769hg38UCSC Ensembl
chr5:109117212..109647470hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38530259
hg19530259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6407864, nsv6404240
Samples
Known GenesLOC100289673, MAN2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5884n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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