A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213292



Internal ID22360283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131702109..131789438hg38UCSC Ensembl
Outerchr4:132623264..132710593hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3844031
hg1944031
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274535, nssv14274538, nssv14274537, nssv14274536
SamplesNA19238, NA19239, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213292
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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