A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6087586



Internal ID21996819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4609950..4609950hg38UCSC Ensembl
chr12:4719116..4719116hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382434
hg192434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17605451
Samples
Known GenesDYRK4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6087586
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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