A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518550



Internal ID294937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37123129..37124714hg38UCSC Ensembl
chr20:35751532..35753117hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381586
hg191586
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732248
Samples
Known GenesMROH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518550
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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