A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535194



Internal ID310885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50059129..50069180hg38UCSC Ensembl
chr22:50497558..50507609hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3810052
hg1910052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729913
Samples
Known GenesMLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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