A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1746n223



Internal ID22804714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132759780..133021498hg38UCSC Ensembl
chr12:133336366..133598084hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38261719
hg19261719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6486714, nsv6488517
Samples
Known GenesANKLE2, CHFR, GOLGA3, ZNF26, ZNF605
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1746n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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