A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559811



Internal ID22428607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82946816..82946816hg38UCSC Ensembl
chr11:82657858..82657858hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358721, nssv14358722
SamplesHG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559811
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