A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259041



Internal ID22132656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:19947148..20032975hg38UCSC Ensembl
Outerchr14:20415307..20501134hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3823473
hg1923473
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230953
Supporting Variants
SamplesHG00513
Known GenesOR4K14, OR4K15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259041
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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