A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542559



Internal ID316968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24922723..24985586hg38UCSC Ensembl
chr22:25318690..25381553hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3862864
hg1962864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728113
Samples
Known GenesSGSM1, TMEM211
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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