A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3880n223



Internal ID22806848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55682201..55712900hg38UCSC Ensembl
chr2:55909336..55940035hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3830700
hg1930700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6343795, nsv6340157, nsv6337250
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3880n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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