A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv321n223



Internal ID22803289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120189501..120241600hg38UCSC Ensembl
chr1:145031321..145083434hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3852100
hg1952114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6321117, nsv6322837
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv321n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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