A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222475



Internal ID22366541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:21576703..21674738hg38UCSC Ensembl
Outerchr11:21598249..21696284hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3898036
hg1998036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253295, nssv14253296
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222475
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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