A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244955



Internal ID22376009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47428566..47438836hg38UCSC Ensembl
Outerchr11:47450117..47460387hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253894, nssv14253892, nssv14253888, nssv14253891, nssv14253895, nssv14253896, nssv14253893, nssv14253889, nssv14253890
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRAPSN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244955
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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