A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264013



Internal ID22272307
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237339
Supporting Variants
SamplesNA19239
Known GenesMYO1F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264013
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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