A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233734



Internal ID22372831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:38061357..38082707hg38UCSC Ensembl
Outerchr8:37918875..37940225hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281080
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233734
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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