A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050415



Internal ID101499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117310197..117312214hg38UCSC Ensembl
chr11:117180913..117182930hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382018
hg192018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502110
Supporting Variants
Samples
Known GenesBACE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050415
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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