A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558266



Internal ID22427069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51365091..51365091hg38UCSC Ensembl
chr14:51831809..51831809hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445438
SamplesHG00733
Known GenesLINC00640
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)nsv3558266
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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