A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485923



Internal ID263303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41603770..41605556hg38UCSC Ensembl
chr8:41461289..41463075hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381787
hg191787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009723
Samples
Known GenesAGPAT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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