A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257399



Internal ID22132130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111516088..111522152hg38UCSC Ensembl
Outerchr13:112168435..112174499hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242072
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257399
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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