A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521138



Internal ID22390551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30786497..30786497hg38UCSC Ensembl
chr8:30644013..30644013hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402275
SamplesNA19240
Known GenesPPP2CB
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)nsv3521138
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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