A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5267n223



Internal ID22808235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53341401..53393800hg38UCSC Ensembl
chr4:54207568..54259967hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3852400
hg1952400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6383897, nsv6395143
Samples
Known GenesFIP1L1, SCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5267n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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