A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473923



Internal ID251604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109199656..109224388hg38UCSC Ensembl
chr8:110211885..110236617hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3824733
hg1924733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015193
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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