A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211386



Internal ID22358960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:131306155..131397838hg38UCSC Ensembl
Outerchr8:132318402..132410085hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3891684
hg1991684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279072
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211386
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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