A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050428



Internal ID101509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117404104..117412628hg38UCSC Ensembl
chr11:117274820..117283344hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg388525
hg198525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499578
Supporting Variants
Samples
Known GenesCEP164
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050428
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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