A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547161



Internal ID321040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40898229..40898552hg38UCSC Ensembl
chr22:41294233..41294556hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729107
Samples
Known GenesXPNPEP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547161
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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