A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1383n209



Internal ID22827458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22319217..22918246hg38UCSC Ensembl
chr22:22673572..23260418hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38599030
hg19586847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5961992, nsv5950038, nsv5956540, nsv5965800, nsv5948228, nsv5961449, nsv5960481, nsv5961753, nsv5949399, nsv5964412, nsv5951069, nsv5954704, nsv5955994, nsv5955656, nsv5957683, nsv5960640, nsv5965193, nsv5955201, nsv5962902, nsv5959927, nsv5956656, nsv5953462
Samples
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv1383n209
Frequency
Sample Size914
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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