A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4020n152



Internal ID22819723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:296114..483532hg38UCSC Ensembl
chr19:296114..483532hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38187419
hg19187419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3248638, nsv3239460
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesC2CD4C, MIER2, ODF3L2, SHC2, THEG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4020n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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