A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231173



Internal ID22372160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46040927..46095763hg38UCSC Ensembl
Outerchr21:47460841..47515677hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382297
hg192297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268682, nssv14268679, nssv14268681, nssv14268678, nssv14268683, nssv14268684, nssv14268680, nssv14268677
SamplesHG00512, NA19238, NA19239, 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)nsv3231173
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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