A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235144



Internal ID21682653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2745719..2745719hg38UCSC Ensembl
chr9:2745719..2745719hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg381532
hg191532
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716954
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)nssv17235144
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