A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721620



Internal ID21747941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122944869..122944869hg38UCSC Ensembl
chr10:124704385..124704385hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238894
Samples
Known GenesC10orf88
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)nsv5721620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer