A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279929



Internal ID22273653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143396646..143412874hg38UCSC Ensembl
Outerchr8:144478816..144495044hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239452
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279929
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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