A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250056



Internal ID21697565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40803902..40803902hg38UCSC Ensembl
chr13:41378038..41378038hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382266
hg192266
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726319
Supporting Variants
Samples
Known GenesSLC25A15, TPTE2P5
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)nssv17250056
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