A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232462



Internal ID22372504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89210349..89210459hg38UCSC Ensembl
chr14:89676693..89676803hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430453
SamplesHG00514
Known GenesFOXN3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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