A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558440



Internal ID22427243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9048494..9048494hg38UCSC Ensembl
chr21:9887327..9887327hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422063, nssv14395151
SamplesNA19240, HG00514
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)nsv3558440
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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