A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218409



Internal ID22363757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231818307..231853086hg38UCSC Ensembl
Outerchr2:232683017..232717796hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381845
hg191845
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5035n152
Supporting Variantsnssv14265758, nssv14265759
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218409
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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