A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219561



Internal ID22364550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:90389197..90397867hg38UCSC Ensembl
Outerchr8:91401425..91410095hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388671
hg198671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280983
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219561
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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