A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424045



Internal ID22163266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141272574..141272574hg38UCSC Ensembl
chr3:140991416..140991416hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558362
Supporting Variants
SamplesHG00514
Known GenesACPL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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