A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424453



Internal ID22163876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169320702..169320702hg38UCSC Ensembl
chr4:170241853..170241853hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557514
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424453
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