A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233729



Internal ID21681238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:110087615..110087615hg38UCSC Ensembl
chr3:109806462..109806462hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718194
Supporting Variants
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)nssv17233729
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