A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715477



Internal ID21741798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38411871..38411871hg38UCSC Ensembl
chr2:38639013..38639013hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246972
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)nsv5715477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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