A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2262n223



Internal ID22805230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104949301..104953100hg38UCSC Ensembl
chr14:105415638..105419437hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6502657, nsv6505091
Samples
Known GenesAHNAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2262n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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