A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224421



Internal ID22367860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115387657..115480414hg38UCSC Ensembl
Outerchr5:114723354..114816111hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275233, nssv14275234, nssv14275235, nssv14275236
SamplesHG00512, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224421
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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