A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248082



Internal ID21695591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210619107..210619107hg38UCSC Ensembl
chr2:211483831..211483831hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726236
Supporting Variants
Samples
Known GenesCPS1, CPS1-IT1
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)nssv17248082
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