A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804391



Internal ID21249729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26601644..26601644hg38UCSC Ensembl
chr22:26997608..26997608hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695721, nssv13692736
Samples
Known GenesCRYBB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804391
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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