A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279710



Internal ID22155009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21034662..21045283hg38UCSC Ensembl
Outerchr8:20892173..20902794hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227978
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279710
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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