A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211828



Internal ID22359262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:968757..1024696hg38UCSC Ensembl
Outerchr8:918757..974696hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3855940
hg1955940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280160, nssv14280157, nssv14280158, nssv14280159
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesERICH1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211828
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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