A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213181



Internal ID22360202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25068811..25139894hg38UCSC Ensembl
Outerchr8:24926326..24997409hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3871084
hg1971084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281577, nssv14281581, nssv14281579, nssv14281580, nssv14281578
SamplesHG00512, NA19239, HG00731, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213181
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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