A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444594



Internal ID222965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46064172..46070533hg38UCSC Ensembl
chr2:46291311..46297672hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386362
hg196362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913604
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444594
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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