A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740348



Internal ID20516323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233058802..233061895hg38UCSC Ensembl
chr1:233194548..233197641hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383094
hg193094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265848
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740348
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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