A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258942



Internal ID22193140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20211809..20239474hg38UCSC Ensembl
Outerchr14:20679968..20707633hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233090
Supporting Variants
SamplesHG00731
Known GenesOR11H6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258942
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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