A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548031



Internal ID321817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20875882..20879029hg38UCSC Ensembl
chr22:21230170..21233317hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727742
Samples
Known GenesSNAP29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548031
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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