A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221440



Internal ID22365830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2486530..2495265hg38UCSC Ensembl
Outerchr5:2486644..2495379hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275831, nssv14275830, nssv14275833, nssv14275834, nssv14275832, nssv14275835
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221440
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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