A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497698



Internal ID274723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118536246..118539242hg38UCSC Ensembl
chr11:118406961..118409957hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382997
hg192997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053616
Samples
Known GenesTMEM25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer