A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295943



Internal ID22120223
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561431
Supporting Variants
SamplesHG00512
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)nssv14295943
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