A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv232n206



Internal ID22755536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80129151..80219156hg38UCSC Ensembl
chr18:77887034..77977039hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3890006
hg1990006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5529865, nsv5529535
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv232n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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