A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1654n223



Internal ID22804622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93217272..93436984hg38UCSC Ensembl
chr12:93611048..93830760hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38219713
hg19219713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6470497, nsv6463185
Samples
Known GenesLOC643339, NUDT4, NUDT4P1, NUDT4P2, UBE2N
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1654n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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