A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228776



Internal ID22370852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91516594..91527794hg38UCSC Ensembl
Outerchr8:92528822..92540022hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3811201
hg1911201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282230, nssv14282229
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228776
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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