A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461595



Internal ID22519480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125442857..125452724hg38UCSC Ensembl
chr11:125312753..125322620hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg389868
hg199868
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849968
Supporting Variants
Samples
Known GenesFEZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461595
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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