A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213237



Internal ID22360245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220637144..220652851hg38UCSC Ensembl
Outerchr2:221501864..221517571hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5000n152
Supporting Variantsnssv14265180, nssv14265181
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213237
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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