A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280393



Internal ID22258166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69159688..69162140hg38UCSC Ensembl
Outerchr8:70071923..70074375hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235901
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280393
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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