A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514878



Internal ID291367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54480937..54481166hg38UCSC Ensembl
chr20:53097476..53097705hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733110
Samples
Known GenesDOK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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