A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558662



Internal ID22427465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90867839..90867839hg38UCSC Ensembl
chr8:91880067..91880067hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428648
SamplesHG00514
Known GenesNECAB1
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)nsv3558662
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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