A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114n223



Internal ID22803082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21982410..22013400hg38UCSC Ensembl
chr1:22308903..22339893hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3830991
hg1930991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6332784, nsv6331063, nsv6331107, nsv6333976, nsv6331509
Samples
Known GenesCELA3A, CELA3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv114n223
Frequency
Sample Size19652
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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