A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220412



Internal ID22365112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47153986..47165140hg38UCSC Ensembl
Outerchr8:48065609..48076763hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3811155
hg1911155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282191
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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