A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211993



Internal ID22359375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60083990..60095215hg38UCSC Ensembl
chr8:60996549..61007774hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3811226
hg1911226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9193n152
Supporting Variantsnssv14341594, nssv14341595
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211993
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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