A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239166



Internal ID21686675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45956657..45956657hg38UCSC Ensembl
chr12:46350440..46350440hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719287
Supporting Variants
Samples
Known GenesSCAF11
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)nssv17239166
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