A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561299



Internal ID22430081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167889451..167889451hg38UCSC Ensembl
chr1:167858689..167858689hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294914, nssv14294913
SamplesNA19239, NA19240
Known GenesADCY10
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)nsv3561299
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