A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5820n223



Internal ID22808788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96271810..96453741hg38UCSC Ensembl
chr5:95607514..95789445hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38181932
hg19181932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6404469, nsv6409989
Samples
Known GenesPCSK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5820n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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