A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240027



Internal ID21687536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223141853..223141853hg38UCSC Ensembl
chr2:224006571..224006571hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720842
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)nssv17240027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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