A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256769



Internal ID22131880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:70329675..70384404hg38UCSC Ensembl
Outerchr13:70903807..70958536hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248137
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256769
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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