A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541587



Internal ID316170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46323745..46345185hg38UCSC Ensembl
chr22:46719642..46741082hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3821441
hg1921441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729562
Samples
Known GenesGTSE1, TRMU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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