A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4253n223



Internal ID22807221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199353224..199354318hg38UCSC Ensembl
chr2:200217947..200219041hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6541569, nsv6541564
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4253n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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