A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv190n206



Internal ID22755494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8735038..8934929hg38UCSC Ensembl
chr16:8828895..9028786hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38199892
hg19199892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5519815, nsv5529152
Samples
Known GenesABAT, CARHSP1, PMM2, TMEM186, USP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv190n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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