A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272152



Internal ID22233692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:81925596..81986115hg38UCSC Ensembl
Outerchr3:81974747..82035266hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg385466
hg195466
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219506
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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