A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497517



Internal ID274548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114376757..114376975hg38UCSC Ensembl
chr11:114247479..114247697hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052533
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497517
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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