A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237339



Internal ID22373851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8565738..8569315hg38UCSC Ensembl
Outerchr19:8630622..8634199hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387850
hg197850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264013
SamplesNA19239
Known GenesMYO1F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237339
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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