A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215406



Internal ID22361754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68272051..68289682hg38UCSC Ensembl
Outerchr4:69137769..69155400hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274082, nssv14274084, nssv14274079, nssv14274083, nssv14274080, nssv14274081
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215406
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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