A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524025



Internal ID300238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18936669..19071022hg38UCSC Ensembl
chr16:18947991..19082344hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38134354
hg19134354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706109
Samples
Known GenesCOQ7, TMC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer