A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457626



Internal ID22251646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32463888..32463888hg38UCSC Ensembl
chr9:32463886..32463886hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558424
Supporting Variants
SamplesHG00733
Known GenesDDX58
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457626
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer