A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722182



Internal ID21748503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226595206..226595206hg38UCSC Ensembl
chr2:227459922..227459922hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234733
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)nsv5722182
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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