A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428268



Internal ID207146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88623116..88834429hg38UCSC Ensembl
chr1:89088799..89300112hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38211314
hg19211314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906378
Samples
Known GenesPKN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428268
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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