A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698314



Internal ID21724635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113024154..113024154hg38UCSC Ensembl
chr3:112743001..112743001hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg388435
hg198435
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224369
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a HERV mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5698314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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