A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv188n206



Internal ID22755492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4957857..5310668hg38UCSC Ensembl
chr16:5007858..5360669hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38352812
hg19352812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5527611, nsv5529697
Samples
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv188n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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