A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281468



Internal ID22137387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65751709..65861624hg38UCSC Ensembl
Outerchr9:42732629..42842202hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg383474
hg193474
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234589
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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