A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521832



Internal ID22391248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184730507..184730507hg38UCSC Ensembl
chr4:185651661..185651661hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397363, nssv14451964
SamplesNA19240, HG00733
Known GenesCENPU
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)nsv3521832
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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