A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527701



Internal ID303787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37049169..37196727hg38UCSC Ensembl
chr20:35677572..35825130hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38147559
hg19147559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732240
Samples
Known GenesMROH8, RBL1, RPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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