A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558687



Internal ID22427490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55456271..55456271hg38UCSC Ensembl
chr14:55922989..55922989hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384415
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558687
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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