A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233583



Internal ID21681092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6294573..6294573hg38UCSC Ensembl
chr6:6294806..6294806hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717262
Supporting Variants
Samples
Known GenesF13A1
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)nssv17233583
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