A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1575n223



Internal ID22804543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057593..67259725hg38UCSC Ensembl
chr12:66451373..67653505hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381202133
hg191202133
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6581407, nsv6590360, nsv6590263
Samples
Known GenesGRIP1, HELB, IRAK3, LLPH, TMBIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1575n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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