A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552121



Internal ID325523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24757676..24757688hg38UCSC Ensembl
chr22:25153643..25153655hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728099
Samples
Known GenesPIWIL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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