A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716660



Internal ID21742981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:38640608..38640608hg38UCSC Ensembl
chr9:38640605..38640605hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246126, nssv17249731
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)nsv5716660
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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