A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223759



Internal ID22367438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70123925..70146869hg38UCSC Ensembl
Outerchr11:69970031..69992975hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3822945
hg1922945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253050, nssv14253051
SamplesNA19238, HG00513
Known GenesANO1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223759
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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