A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222308



Internal ID22366419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:104037097..104069726hg38UCSC Ensembl
Outerchr11:103907825..103940454hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3832630
hg1932630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254391, nssv14254393, nssv14254392, nssv14254390
SamplesNA19239, HG00732, HG00733, HG00514
Known GenesDDI1, PDGFD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222308
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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