A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215476



Internal ID22361796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:75984508..76000819hg38UCSC Ensembl
Outerchr8:76896743..76913054hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3816312
hg1916312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282226
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215476
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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