A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246696



Internal ID22376497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1167951..1197187hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254975, nssv14254974
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246696
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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