A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523925



Internal ID22393354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60108768..60108768hg38UCSC Ensembl
chr14:60575486..60575486hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388524, nssv14417986, nssv14445464
SamplesNA19240, HG00733, HG00514
Known GenesPCNXL4
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)nsv3523925
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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