A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242052



Internal ID22375151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47346075..47372323hg38UCSC Ensembl
Outerchr11:47367626..47393874hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382140
hg192140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253885, nssv14253881, nssv14253717, nssv14253883, nssv14253880, nssv14253882, nssv14253886, nssv14253887, nssv14253884
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMYBPC3, SPI1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242052
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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