A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730757



Internal ID21757078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58677983..58677983hg38UCSC Ensembl
chr18:56345215..56345215hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244468
Samples
Known GenesMALT1
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)nsv5730757
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