A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561431



Internal ID22430199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179522831..179522831hg38UCSC Ensembl
chr1:179491966..179491966hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295946, nssv14295943, nssv14295944, nssv14295945
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesAXDND1
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)nsv3561431
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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