A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053435



Internal ID103472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125457422..125457502hg38UCSC Ensembl
chr11:125327318..125327398hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496185
Supporting Variants
Samples
Known GenesFEZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053435
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007812


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