A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214223



Internal ID22360939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37493326..37494349hg38UCSC Ensembl
Outerchr8:37350844..37351867hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280651, nssv14280650
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214223
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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