A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242386



Internal ID22375261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26441374..26478784hg38UCSC Ensembl
Outerchr13:27015511..27052921hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3832051
hg1932051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2188n152
Supporting Variantsnssv14257389
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242386
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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