A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712860



Internal ID21739181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218407124..218407124hg38UCSC Ensembl
chr2:219271847..219271847hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg388417
hg198417
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216289
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)nsv5712860
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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