A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv555n223



Internal ID22803523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233291342..233292405hg38UCSC Ensembl
chr1:233427088..233428151hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381064
hg191064
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6535826, nsv6539031
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv555n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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