A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5624n152



Internal ID22821327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46364841..46417100hg38UCSC Ensembl
chr21:47784756..47837014hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852260
hg1952259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3234061, nsv3243037
SamplesHG00512, HG00731, HG00732, NA19240, HG00733
Known GenesPCNT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5624n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer