A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218029



Internal ID22363516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:20609448..20629097hg38UCSC Ensembl
Outerchr8:20466959..20486608hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279707
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218029
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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