A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5607n152



Internal ID22821310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45959109..45982708hg38UCSC Ensembl
chr21:47379023..47402622hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823600
hg1923600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213930, nsv3227843
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesCOL6A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5607n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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