A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210825



Internal ID22358595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:108198723..108232746hg38UCSC Ensembl
Outerchr8:109210952..109244975hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3834024
hg1934024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281610, nssv14281609
SamplesNA19239, NA19240
Known GenesEIF3E
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210825
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