A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051462



Internal ID102164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121480621..121481910hg38UCSC Ensembl
chr11:121351330..121352619hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501786
Supporting Variants
Samples
Known GenesSORL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051462
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003445


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