A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248288



Internal ID22376940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50280466..50285941hg38UCSC Ensembl
Outerchr22:50718895..50724370hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383746
hg193746
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269204
SamplesHG00732
Known GenesPLXNB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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