A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522069



Internal ID22391488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55329134..55329134hg38UCSC Ensembl
chr14:55795852..55795852hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389808, nssv14417968
SamplesNA19240, HG00514
Known GenesFBXO34
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522069
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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