A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4381n152



Internal ID22820084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56899629..56981319hg38UCSC Ensembl
chr19:57410997..57492687hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3881691
hg1981691
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233741, nsv3239805
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4381n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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