A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726586



Internal ID21752907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53232913..53232913hg38UCSC Ensembl
chr2:53460051..53460051hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg385882
hg195882
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249216, nssv17239245
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)nsv5726586
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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