A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1998n223



Internal ID22804966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114239404..114314400hg38UCSC Ensembl
chr13:115004879..115079875hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3874997
hg1974997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6482882, nsv6477363
Samples
Known GenesCDC16, UPF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1998n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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