A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545649



Internal ID319670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28800593..28800625hg38UCSC Ensembl
chr22:29196581..29196613hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728329
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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