A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222771



Internal ID22366744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58036358..58058516hg38UCSC Ensembl
Outerchr11:57803830..57825988hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3822159
hg1922159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253877, nssv14253878, nssv14253879, nssv14253875, nssv14253876, nssv14253874
SamplesHG00512, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesOR9Q1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222771
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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