A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6109764



Internal ID22018997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26601652..26601652hg38UCSC Ensembl
chr22:26997616..26997616hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17639771
Samples
Known GenesCRYBB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6109764
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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