A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264073



Internal ID22261061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158721793..158765888hg38UCSC Ensembl
Outerchr1:158691583..158735678hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229972
Supporting Variants
SamplesNA19238
Known GenesOR6K6, OR6N1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264073
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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