A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728368



Internal ID21754689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31668642..31668642hg38UCSC Ensembl
chr2:31893711..31893711hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243382, nssv17236591
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)nsv5728368
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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