A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4230n223



Internal ID22807198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190527701..190545400hg38UCSC Ensembl
chr2:191392427..191410126hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3817700
hg1917700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6342548, nsv6339210
Samples
Known GenesTMEM194B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4230n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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