A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983085



Internal ID21892428
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 StatusM
Merged Variants
Supporting Variantsnssv17522131
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983085
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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