A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562393



Internal ID22431147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33156871..33156871hg38UCSC Ensembl
chr21:34529177..34529177hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301875, nssv14301873, nssv14301872, nssv14301870, nssv14301871, nssv14301874
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562393
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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