A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543740



Internal ID317965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36092426..36093698hg38UCSC Ensembl
chr22:36488474..36489746hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728748
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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