A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219678



Internal ID20786718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13465633..13766167hg38UCSC Ensembl
chr8:13323142..13623676hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38300535
hg19300535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434845
Supporting Variants
Samples
Known GenesC8orf48, DLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219678
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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