A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237801



Internal ID21685310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126456528..126456528hg38UCSC Ensembl
chr9:129218807..129218807hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721538
Supporting Variants
Samples
Known GenesMVB12B
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)nssv17237801
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