A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279143



Internal ID22258892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1963112..1989684hg38UCSC Ensembl
Outerchr8:1911278..1937850hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228387
Supporting Variants
SamplesNA19238
Known GenesKBTBD11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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