A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564566



Internal ID22433296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165866419..165866419hg38UCSC Ensembl
chr6:166279907..166279907hg19UCSC Ensembl
Cytoband6q27
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 Variantsnssv14332120, nssv14332119
SamplesHG00512, HG00514
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)nsv3564566
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