A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246694



Internal ID22376496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29685273..29703838hg38UCSC Ensembl
Outerchr13:30259410..30277975hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382909
hg192909
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257521, nssv14257522
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246694
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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