A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546186



Internal ID320164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38193358..38217372hg38UCSC Ensembl
chr22:38589365..38613379hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3824015
hg1924015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728909
Samples
Known GenesMAFF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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