A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522498



Internal ID298762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6000583..6000660hg38UCSC Ensembl
chr20:5981229..5981306hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730602
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522498
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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