A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534856



Internal ID310603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38642665..38644910hg38UCSC Ensembl
chr22:39038670..39040915hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382246
hg192246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728948
Samples
Known GenesFAM227A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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