A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225774



Internal ID22368801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124244182..124273771hg38UCSC Ensembl
Outerchr11:124114932..124143667hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3829590
hg1928736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253648, nssv14253643, nssv14253645, nssv14253646, nssv14253651, nssv14253644, nssv14253649, nssv14253650, nssv14253647
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesOR8G1, OR8G5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225774
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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