A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283965



Internal ID22382322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89360697..89361120hg38UCSC Ensembl
chr14:89827041..89827464hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404520
SamplesNA19240
Known GenesFOXN3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283965
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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