A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237610



Internal ID21685119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15647243..15647243hg38UCSC Ensembl
chr4:15648866..15648866hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724550
Supporting Variants
Samples
Known GenesFBXL5
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)nssv17237610
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