A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249083



Internal ID21696592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67377263..67377263hg38UCSC Ensembl
chr12:67771043..67771043hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382738
hg192738
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722879
Supporting Variants
Samples
Known Genes
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)nssv17249083
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