A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281367



Internal ID22186291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:67651543..67672963hg38UCSC Ensembl
Outerchr9:46310079..46338807hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg387374
hg197374
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236824
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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