A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553416



Internal ID326665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20339564..20352000hg38UCSC Ensembl
chr22:20327087..20706290hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3812437
hg19379204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727702
Samples
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553416
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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