A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451883



Internal ID230050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233058791..233061884hg38UCSC Ensembl
chr1:233194537..233197630hg19UCSC 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 Variantsnssv16896942
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451883
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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