A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397236



Internal ID22455106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42984117..42987677hg38UCSC Ensembl
chr22:43380123..43383683hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383561
hg193561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955359
Supporting Variants
Samples
Known GenesPACSIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397236
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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