A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804489



Internal ID21249827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46860149..46860149hg38UCSC Ensembl
chr22:47256045..47256045hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13683381
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804489
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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