A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558594



Internal ID22427396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19860131..19860131hg38UCSC Ensembl
chr11:19881677..19881677hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415377, nssv14388532, nssv14442804
SamplesNA19240, HG00733, HG00514
Known GenesNAV2
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)nsv3558594
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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