A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280573



Internal ID22304978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:102533582..102553854hg38UCSC Ensembl
Outerchr8:103545810..103566082hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236230
Supporting Variants
SamplesNA19240
Known GenesODF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280573
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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