A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561297



Internal ID22430079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165690069..165690069hg38UCSC Ensembl
chr1:165659306..165659306hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294711, nssv14294707, nssv14294706, nssv14294709, nssv14294710, nssv14294705, nssv14294708
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesALDH9A1
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)nsv3561297
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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