A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728389



Internal ID21754710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100340699..100340699hg38UCSC Ensembl
chr8:101352927..101352927hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381472
hg191472
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247043
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)nsv5728389
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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