A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521038



Internal ID22390450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66431845..66431845hg38UCSC Ensembl
chr2:66658977..66658977hg19UCSC Ensembl
Cytoband2p14
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 Variantsnssv14394108, nssv14448183
SamplesNA19240, HG00733
Known GenesMEIS1-AS3
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)nsv3521038
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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