A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052470



Internal ID102825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113780379..113780430hg38UCSC Ensembl
chr11:113651101..113651152hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433376
Supporting Variants
Samples
Known GenesCLDN25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052470
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