A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053616



Internal ID103588
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 StatusS
Merged Variantsnsv5497698
Supporting Variants
Samples
Known GenesTMEM25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053616
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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