A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396993



Internal ID176404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233010759..233010810hg38UCSC Ensembl
chr1:233146505..233146556hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898631
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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