A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4747n223



Internal ID22807715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187110..1039214hg38UCSC Ensembl
chr3:228793..1080898hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38852105
hg19852106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6349170, nsv6338864
Samples
Known GenesCHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4747n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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