A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3344n223



Internal ID22806312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36057701..36095200hg38UCSC Ensembl
chr18:33637664..33675163hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3837500
hg1937500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6521524, nsv6527171
Samples
Known GenesRPRD1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3344n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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