A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6025498



Internal ID21934841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4596359..4602818hg38UCSC Ensembl
chr12:4705525..4711984hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg386460
hg196460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17597850
Samples
Known GenesDYRK4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6025498
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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