A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519702



Internal ID22387529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:27003684..27003684hg38UCSC Ensembl
chr11:27025231..27025231hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376855, nssv14415412
SamplesNA19240, HG00514
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)nsv3519702
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