A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405459



Internal ID22310122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76134751..76134856hg38UCSC Ensembl
chr16:76168649..76168754hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242414
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405459
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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