A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1581n223



Internal ID22804549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66153201..66189200hg38UCSC Ensembl
chr12:66546981..66582980hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3836000
hg1936000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6457477, nsv6462793
Samples
Known GenesIRAK3, TMBIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1581n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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