A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222675



Internal ID22366678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100970805..100983448hg38UCSC Ensembl
Outerchr8:101983033..101995676hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3812644
hg1912644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278876, nssv14278877
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222675
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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