A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358342



Internal ID22584011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233029648..233029725hg38UCSC Ensembl
chr1:233165394..233165471hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876942
Supporting Variants
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358342
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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