A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715434



Internal ID21741755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67696833..67696833hg38UCSC Ensembl
chr2:67923965..67923965hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382409
hg192409
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240526
Samples
Known Genes
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)nsv5715434
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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