A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510818



Internal ID287425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130056618..130063214hg38UCSC Ensembl
chr11:129926513..129933109hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386597
hg196597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050773
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510818
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