A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232044



Internal ID22372405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42672868..42726862hg38UCSC Ensembl
Outerchr11:42694418..42748412hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381353
hg191353
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253693, nssv14253696, nssv14253695, nssv14253691, nssv14253692, nssv14253694
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232044
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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