A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv415n209



Internal ID22826490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54328874..54333073hg38UCSC Ensembl
chr12:54722658..54726857hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5857710, nsv5858989
Samples
Known GenesCOPZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv415n209
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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