A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244183



Internal ID21691692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63622085..63622085hg38UCSC Ensembl
chr2:63849219..63849219hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727284
Supporting Variants
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)nssv17244183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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