A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250431



Internal ID21697940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64980572..64980572hg38UCSC Ensembl
chr14:65447290..65447290hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg383066
hg193066
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730633
Supporting Variants
Samples
Known GenesCHURC1-FNTB
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)nssv17250431
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