A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv554n223



Internal ID22803522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231418601..231436400hg38UCSC Ensembl
chr1:231554347..231572146hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3817800
hg1917800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6333267, nsv6323505
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv554n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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