A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558380



Internal ID22427183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40314023..40314023hg38UCSC Ensembl
chr9:42459041..42459041hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427718
SamplesHG00514
Known Genes
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)nsv3558380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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