A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537092



Internal ID312446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50219424..50219474hg38UCSC Ensembl
chr22:50657853..50657903hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729924
Samples
Known GenesTUBGCP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537092
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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