A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225183



Internal ID22368389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72241249..72244512hg38UCSC Ensembl
Outerchr11:71952293..71955556hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383264
hg193264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254420
SamplesNA19240
Known GenesPHOX2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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