A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1596n209



Internal ID22827671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143790321..144057657hg38UCSC Ensembl
chr4:144711474..144978810hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38267337
hg19267337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5898209, nsv5898208, nsv5899276
Samples
Known GenesGYPB, GYPE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv1596n209
Frequency
Sample Size914
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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