A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729655



Internal ID21755976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39298036..39298036hg38UCSC Ensembl
chr2:39525177..39525177hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248679
Samples
Known GenesMAP4K3
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)nsv5729655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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