A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234888



Internal ID22373147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33311059..33333856hg38UCSC Ensembl
Outerchr21:34683364..34706162hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382172
hg192172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268747, nssv14268746
SamplesNA19239, NA19240
Known GenesIFNAR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234888
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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