A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528792



Internal ID304834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8742337..8811547hg38UCSC Ensembl
chr16:8836194..8905404hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3869211
hg1969211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv191n206
Supporting Variantsnssv17706855
Samples
Known GenesABAT, PMM2, TMEM186
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528792
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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