A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493951



Internal ID271113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113688846..113692146hg38UCSC Ensembl
chr11:113559568..113562868hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052467
Samples
Known GenesTMPRSS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493951
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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