A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246612



Internal ID22376465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22717947..22725451hg38UCSC Ensembl
Outerchr20:22698585..22706089hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg386042
hg196042
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268121
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246612
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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