A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5376n223



Internal ID22808344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94835201..94840100hg38UCSC Ensembl
chr4:95756352..95761251hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6376721, nsv6382060
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5376n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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