A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233090



Internal ID22372664
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258943, nssv14258942
SamplesNA19239, HG00731
Known GenesOR11H6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233090
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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