A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17987023



Internal ID20554064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121480001..121482500hg38UCSC Ensembl
chr11:121350710..121353209hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469427
Supporting Variants
Samples
Known GenesSORL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17987023
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0014


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