A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215158



Internal ID22361583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194324461..194352679hg38UCSC Ensembl
Outerchr3:194047252..194073408hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272536, nssv14272537
SamplesHG00512, HG00731
Known GenesCPN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215158
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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