A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423185



Internal ID202207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88792253..88794097hg38UCSC Ensembl
chr1:89257936..89259780hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381845
hg191845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905550
Samples
Known GenesPKN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423185
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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