A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259053



Internal ID22132670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105516016..105596238hg38UCSC Ensembl
Outerchr14:105982353..106062575hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382643
hg192643
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234709
Supporting Variants
SamplesHG00513
Known GenesTMEM121
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259053
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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