A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515452



Internal ID291932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18675511..18675593hg38UCSC Ensembl
chr20:18656155..18656237hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731383
Samples
Known GenesDTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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