A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558919



Internal ID22427724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25431199..25431199hg38UCSC Ensembl
chr12:25584133..25584133hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380989, nssv14443545
SamplesNA19240, HG00733
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)nsv3558919
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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