A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv73n223



Internal ID22803041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12850801..12895000hg38UCSC Ensembl
chr1:12910654..12954831hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3844200
hg1944178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6323526, nsv6327481
Samples
Known GenesPRAMEF10, PRAMEF2, PRAMEF4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv73n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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