A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5243n223



Internal ID22808211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39957953..40097151hg38UCSC Ensembl
chr4:39959573..40098771hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38139199
hg19139199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6383770, nsv6376162
Samples
Known GenesLOC344967, N4BP2, PDS5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5243n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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