A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv461n223



Internal ID22803429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185947201..185954600hg38UCSC Ensembl
chr1:185916333..185923732hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg387400
hg197400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6317243, nsv6334373
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv461n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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