A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244558



Internal ID22375893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69287528..69296148hg38UCSC Ensembl
Outerchr11:69054995..69063615hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255112
SamplesNA19238
Known GenesMYEOV
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244558
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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