A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502506



Internal ID279369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108432144..108587100hg38UCSC Ensembl
chr11:108302871..108457827hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38154957
hg19154957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049131
Samples
Known GenesC11orf65, EXPH5, KDELC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502506
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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