A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543482



Internal ID317730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41623496..41626746hg38UCSC Ensembl
chr22:42019500..42022750hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383251
hg193251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729156
Samples
Known GenesXRCC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543482
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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