A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257533



Internal ID22271134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:47726507..47744881hg38UCSC Ensembl
Outerchr13:48300642..48319016hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241921
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257533
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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