A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv470n223



Internal ID22803438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189024226..190003524hg38UCSC Ensembl
chr1:188993357..189972654hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38979299
hg19979298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6334054, nsv6325204, nsv6328891
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv470n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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