A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6070493



Internal ID21979726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27501346..27501346hg38UCSC Ensembl
chr8:27358863..27358863hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563762
Samples
Known GenesEPHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6070493
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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