A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523362



Internal ID22392789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84191990..84191990hg38UCSC Ensembl
chr11:83903033..83903033hg19UCSC Ensembl
Cytoband11q14.1
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 Variantsnssv14381217
SamplesNA19240
Known GenesDLG2
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)nsv3523362
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