A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497486



Internal ID274519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108516014..109024471hg38UCSC Ensembl
chr11:108386741..108895198hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38508458
hg19508458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049139
Samples
Known GenesDDX10, EXPH5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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