A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397800



Internal ID22315572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186654334..186654334hg38UCSC Ensembl
chr3:186372123..186372123hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386044
hg196044
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547373
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14397800
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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