A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226712



Internal ID22369424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1425610..1438410hg38UCSC Ensembl
Outerchr11:1446840..1459640hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3812801
hg1912801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253510, nssv14253511
SamplesHG00731, HG00733
Known GenesBRSK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226712
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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