A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6110385



Internal ID22019618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55078478..55078478hg38UCSC Ensembl
chr19:55589846..55589846hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17621687
Samples
Known GenesEPS8L1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6110385
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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