A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518211



Internal ID294608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45914165..45917033hg38UCSC Ensembl
chr20:44542804..44545672hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382869
hg192869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732647
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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