A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216087



Internal ID22362203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:108914641..108954490hg38UCSC Ensembl
Outerchr8:109926870..109966719hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3839850
hg1939850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279071
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216087
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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