A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520169



Internal ID296506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63981391..63981450hg38UCSC Ensembl
chr20:62612744..62612803hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733715
Samples
Known GenesPRPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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