A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265614



Internal ID22134916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238908521..238911362hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381087
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226480
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265614
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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