A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719687



Internal ID21746008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43244668..43244668hg38UCSC Ensembl
chr2:43471807..43471807hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247373
Samples
Known GenesTHADA
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)nsv5719687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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