A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242076



Internal ID22375160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131325469..131346724hg38UCSC Ensembl
Outerchr11:131195364..131216619hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255737, nssv14255738, nssv14255736, nssv14255739
SamplesHG00512, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242076
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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