A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474423



Internal ID252083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86378982..86474860hg38UCSC Ensembl
chr8:87391211..87487089hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3895879
hg1995879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013475
Samples
Known GenesRMDN1, WWP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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