A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498048



Internal ID275057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32588734..32589011hg38UCSC Ensembl
chr11:32610280..32610557hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045606
Samples
Known GenesEIF3M
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498048
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