A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483642



Internal ID22541549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43382176..43389406hg38UCSC Ensembl
chr22:43778182..43785412hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387231
hg197231
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885547
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483642
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