A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245922



Internal ID22376277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66595875..66604259hg38UCSC Ensembl
Outerchr11:66363346..66371730hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255755, nssv14255753, nssv14255754, nssv14255752
SamplesHG00731, HG00732, HG00733, HG00513
Known GenesCCS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245922
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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