A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279754



Internal ID22184915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26310062..26311593hg38UCSC Ensembl
Outerchr8:26167578..26169109hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211854
Supporting Variants
SamplesHG00731
Known GenesPPP2R2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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