A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433376



Internal ID212095
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 StatusM
Merged Variants
Supporting Variantsnssv17052470
Samples
Known GenesCLDN25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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