A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257980



Internal ID22132306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104211914..104236110hg38UCSC Ensembl
Outerchr14:104678251..104702447hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381708
hg191708
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231755
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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