A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5759n223



Internal ID22808727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54019084..54369072hg38UCSC Ensembl
chr5:53314914..53664902hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38349989
hg19349989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6410954, nsv6403453
Samples
Known GenesARL15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5759n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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