A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549198



Internal ID322885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41574318..41606433hg38UCSC Ensembl
chr22:41970322..42002437hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3832116
hg1932116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729154
Samples
Known GenesCSDC2, DESI1, PMM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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