A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258111



Internal ID22221561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25252943..25296847hg38UCSC Ensembl
Outerchr14:25722149..25766053hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381728
hg191728
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235489
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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