A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521478



Internal ID22390893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56139950..56139950hg38UCSC Ensembl
chr14:56606668..56606668hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417971
SamplesHG00514
Known GenesPELI2
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)nsv3521478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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