A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17522131



Internal ID21846490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233068992..233070130hg38UCSC Ensembl
chr1:233204738..233205876hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5983085
Supporting Variants
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17522131
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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