A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289660



Internal ID22133599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131355984..131416081hg38UCSC Ensembl
Outerchr9:134231371..134291468hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245866
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289660
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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