A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535271



Internal ID310927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42706664..42708471hg38UCSC Ensembl
chr22:43102670..43104477hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729261
Samples
Known GenesA4GALT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535271
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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