A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508584



Internal ID285271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118607363..118609850hg38UCSC Ensembl
chr11:118478078..118480565hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053623
Samples
Known GenesPHLDB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508584
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