A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718403



Internal ID21744724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105959713..105959713hg38UCSC Ensembl
chr4:106880870..106880870hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239360, nssv17241525
Samples
Known GenesNPNT
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)nsv5718403
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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