A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520459



Internal ID22389867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11481478..11481478hg38UCSC Ensembl
chr12:11634412..11634412hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390915
SamplesNA19240
Known Genes
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)nsv3520459
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer