A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493867



Internal ID271031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20220708..20220761hg38UCSC Ensembl
chr8:20078219..20078272hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009143
Samples
Known GenesATP6V1B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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