A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715395



Internal ID21741716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85818873..85818873hg38UCSC Ensembl
chr3:85868023..85868023hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238148, nssv17234120
Samples
Known GenesCADM2, CADM2-AS2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5715395
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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