A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280403



Internal ID22155256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:77326702..77364881hg38UCSC Ensembl
Outerchr8:78238938..78277117hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236089
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280403
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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