A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519230



Internal ID295583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19924136..19924511hg38UCSC Ensembl
chr20:19904780..19905155hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731441
Samples
Known GenesRIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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