A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752339



Internal ID20528199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388126..56388126hg38UCSC Ensembl
chr20:54963182..54963182hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264643
Samples
Known GenesAURKA
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752339
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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