A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550696



Internal ID324222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26495553..26495677hg38UCSC Ensembl
chr22:26891519..26891643hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728201
Samples
Known GenesTFIP11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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