A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4060n152



Internal ID22819763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1610099..1635386hg38UCSC Ensembl
chr19:1610098..1635385hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3825288
hg1925288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243349, nsv3235626
SamplesHG00512, NA19239, HG00732, NA19240, HG00733
Known GenesTCF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4060n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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