A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561073



Internal ID22429866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23521780..23521780hg38UCSC Ensembl
chr16:23533101..23533101hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375042, nssv14389556
SamplesHG00731, 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)nsv3561073
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