A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279932



Internal ID22230753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143649541..143673224hg38UCSC Ensembl
Outerchr8:144731711..144755394hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389757
hg199757
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242579
Supporting Variants
SamplesHG00733
Known GenesZNF623
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279932
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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