A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721758



Internal ID21748079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:22962275..22962275hg38UCSC Ensembl
chr2:23185147..23185147hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg384711
hg194711
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245810
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)nsv5721758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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