A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280650



Internal ID22117171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37493326..37494349hg38UCSC Ensembl
Outerchr8:37350844..37351867hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214223
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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