A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231879



Internal ID20798919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20194801..20200100hg38UCSC Ensembl
chr8:20052312..20057611hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434376
Supporting Variants
Samples
Known GenesATP6V1B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231879
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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