A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882410



Internal ID22657387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233058719..233061847hg38UCSC Ensembl
chr1:233194465..233197593hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383129
hg193129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356105
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882410
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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