A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559730



Internal ID22428526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12451479..12451479hg38UCSC Ensembl
chr12:12604413..12604413hg19UCSC Ensembl
Cytoband12p13.2
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 Variantsnssv14360284
SamplesHG00732
Known GenesLOH12CR1
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)nsv3559730
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