A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554647



Internal ID22423504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180407488..180407488hg38UCSC Ensembl
chr3:180125276..180125276hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396654
SamplesNA19240
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)nsv3554647
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