A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558289



Internal ID22427092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115463303..115463303hg38UCSC Ensembl
chr5:114799000..114799000hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38905
hg19905
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424625, nssv14461751, nssv14399377
SamplesNA19240, HG00733, 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)nsv3558289
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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