A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718350



Internal ID21744671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99359851..99359851hg38UCSC Ensembl
chr7:98957474..98957474hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233663
Samples
Known GenesARPC1A
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)nsv5718350
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