A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389894



Internal ID22295483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107809481..107809481hg38UCSC Ensembl
chr12:108203258..108203258hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558263
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389894
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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