A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213331



Internal ID22360311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:96797806..96815826hg38UCSC Ensembl
Outerchr4:97718957..97736977hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273993, nssv14274226, nssv14274225, nssv14274224
SamplesHG00512, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213331
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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