A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280482



Internal ID22134507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128716278..128734124hg38UCSC Ensembl
Outerchr8:129728524..129746370hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383264
hg193264
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236660
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280482
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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