A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257331



Internal ID22286431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111693308..111855015hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg388797
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245804
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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