A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538011



Internal ID313183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29474459..29551197hg38UCSC Ensembl
chr22:29870448..29947186hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3876739
hg1976739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728364
Samples
Known GenesNEFH, THOC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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