A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244984



Internal ID21692493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159462438..159462438hg38UCSC Ensembl
chr2:160318949..160318949hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382122
hg192122
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714694
Supporting Variants
Samples
Known GenesBAZ2B
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)nssv17244984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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