A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007469



Internal ID72618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13232752..13770498hg38UCSC Ensembl
chr8:13090261..13628007hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38537747
hg19537747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478256
Supporting Variants
Samples
Known GenesC8orf48, DLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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