A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257659



Internal ID22132192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80399472..80423181hg38UCSC Ensembl
Outerchr13:80973607..80997316hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239641
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257659
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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