A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210780



Internal ID22358572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:119165080..119176537hg38UCSC Ensembl
Outerchr8:120177319..120188776hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3811458
hg1911458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281484
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210780
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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