A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6065059



Internal ID21974292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131045325..131045325hg38UCSC Ensembl
chr6:131366465..131366465hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17575832
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6065059
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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