A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279901



Internal ID22135795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143032677..143096942hg38UCSC Ensembl
Outerchr8:144114094..144178359hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386075
hg196075
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238892
Supporting Variants
SamplesHG00513
Known GenesC8orf31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279901
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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