A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233477



Internal ID21680986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19099132..19099132hg38UCSC Ensembl
chr7:19138755..19138755hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728229
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)nssv17233477
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