A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3802n223



Internal ID22806770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18553401..18593000hg38UCSC Ensembl
chr2:18734667..18774266hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3839600
hg1939600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6354577, nsv6343455
Samples
Known GenesNT5C1B, NT5C1B-RDH14, RDH14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3802n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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