A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3882n223



Internal ID22806850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55692101..55718100hg38UCSC Ensembl
chr2:55919236..55945235hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3826000
hg1926000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6336887, nsv6341450
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3882n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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