A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222142



Internal ID22366312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37379823..37479389hg38UCSC Ensembl
Outerchr8:37237341..37336907hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3899567
hg1999567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279093
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222142
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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