A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229079



Internal ID22371043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:987644..1034398hg38UCSC Ensembl
Outerchr8:937644..984398hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3846755
hg1946755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281544, nssv14281545, nssv14281546
SamplesHG00512, NA19239, HG00732
Known GenesERICH1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229079
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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