A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697012



Internal ID21723333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145028002..145028002hg38UCSC Ensembl
chr8:146253388..146253388hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388623
hg198623
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219811, nssv17233091
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)nsv5697012
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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