A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279769



Internal ID22117725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30734407..30752123hg38UCSC Ensembl
Outerchr8:30591924..30609640hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227044
Supporting Variants
SamplesHG00512
Known GenesUBXN8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279769
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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