A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4088n152



Internal ID22819791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3964563..4042244hg38UCSC Ensembl
chr19:3964561..4042242hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3877682
hg1977682
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233492, nsv3232407
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAPK3, EEF2, PIAS4, SNORD37
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4088n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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