A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253079



Internal ID22129606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108798182..108811532hg38UCSC Ensembl
Outerchr9:111560462..111573812hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384581
hg194581
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245196
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253079
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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