A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279768



Internal ID22317906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30356230..30372240hg38UCSC Ensembl
Outerchr8:30213746..30229756hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220464
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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