A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215348



Internal ID22361712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:24823446..24861393hg38UCSC Ensembl
Outerchr8:24680959..24718906hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3837948
hg1937948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280906, nssv14280905
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215348
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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