A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522179



Internal ID22391598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86909209..86909209hg38UCSC Ensembl
chr14:87375553..87375553hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417590
SamplesHG00514
Known GenesLOC283585
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)nsv3522179
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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