A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728709



Internal ID21755030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:87276767..87276767hg38UCSC Ensembl
chr9:89891682..89891682hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248030, nssv17246511
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)nsv5728709
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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