A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258284



Internal ID22256064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112330365..112350571hg38UCSC Ensembl
Outerchr13:112984679..113004885hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242873
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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