A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1747n223



Internal ID22804715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132878833..133218887hg38UCSC Ensembl
chr12:133455419..133795473hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38340055
hg19340055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6477694, nsv6495299
Samples
Known GenesANHX, CHFR, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF84, ZNF891
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1747n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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