A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714690



Internal ID21741011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99694180..99694180hg38UCSC Ensembl
chr2:100310642..100310642hg19UCSC Ensembl
Cytoband2q11.2
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 Variantsnssv17247976
Samples
Known GenesAFF3
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)nsv5714690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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