A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481561



Internal ID259035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19911946..20226032hg38UCSC Ensembl
chr8:19769457..20083543hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38314087
hg19314087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009113
Samples
Known GenesATP6V1B2, LPL, SLC18A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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