A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546974



Internal ID320869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28747651..28767952hg38UCSC Ensembl
chr22:29143639..29163940hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3820302
hg1920302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728322
Samples
Known GenesHSCB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546974
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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