A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217765



Internal ID22363322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:114514563..114576733hg38UCSC Ensembl
Outerchr8:115526792..115588962hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3862171
hg1962171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282231
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217765
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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