A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560215



Internal ID22429011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52291719..52291719hg38UCSC Ensembl
chr12:52685503..52685503hg19UCSC Ensembl
Cytoband12q13.13
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 Variantsnssv14363424
SamplesNA19238
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)nsv3560215
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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