A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239097



Internal ID21686606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27915520..27915520hg38UCSC Ensembl
chr2:28138387..28138387hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381689
hg191689
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720016
Supporting Variants
Samples
Known GenesBRE
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)nssv17239097
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