A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482905



Internal ID22540811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35754265..35755675hg38UCSC Ensembl
chr22:36150312..36151722hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877512
Supporting Variants
Samples
Known GenesRBFOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482905
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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