A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009143



Internal ID73735
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 StatusS
Merged Variantsnsv5493867
Supporting Variants
Samples
Known GenesATP6V1B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00281


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