A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1725n223



Internal ID22804693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123425214..123429439hg38UCSC Ensembl
chr12:123909761..123913986hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384226
hg194226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6485009, nsv6493316
Samples
Known GenesRILPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1725n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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