A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557501



Internal ID22426307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17880270..17880270hg38UCSC Ensembl
chr20:17860914..17860914hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394758
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557501
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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