A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2954n223



Internal ID22805922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84365201..84527800hg38UCSC Ensembl
chr16:84398807..84561406hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38162600
hg19162600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6506253, nsv6497387
Samples
Known GenesATP2C2, TLDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2954n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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