A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557925



Internal ID22426729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:13256672..13256672hg38UCSC Ensembl
chr11:13278219..13278219hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442780
SamplesHG00733
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)nsv3557925
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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