A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213211



Internal ID22360225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:137098958..137119708hg38UCSC Ensembl
Outerchr8:138111201..138131951hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3820751
hg1920751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278840
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213211
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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