A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732314



Internal ID155980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38482462..38484771hg38UCSC Ensembl
chr20:37111105..37113414hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382310
hg192310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146913
Supporting Variants
Samples
Known GenesRALGAPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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