A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242357



Internal ID22375251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131678513..131684047hg38UCSC Ensembl
Outerchr11:131548407..131553941hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254758, nssv14254754, nssv14254755, nssv14254759, nssv14254760, nssv14254756, nssv14254757
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesNTM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242357
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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