A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226550



Internal ID22369313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65361871..65377513hg38UCSC Ensembl
Outerchr11:65129342..65144984hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3815643
hg1915643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254478, nssv14254477
SamplesHG00513, HG00514
Known GenesSLC25A45
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226550
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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