A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384732



Internal ID22314327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63620897..63620897hg38UCSC Ensembl
chr14:64087615..64087615hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523215
Supporting Variants
SamplesNA19240
Known GenesWDR89
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)nssv14384732
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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