A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4368n152



Internal ID22820071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55664621..55732886hg38UCSC Ensembl
chr19:56175987..56244252hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3868266
hg1968266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228184, nsv3211070
SamplesNA19239
Known GenesEPN1, NLRP9, U2AF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4368n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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