A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219118



Internal ID22364241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:105619824..105682753hg38UCSC Ensembl
Outerchr11:105490551..105553480hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3862930
hg1962930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254487
SamplesHG00513
Known GenesGRIA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219118
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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