A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905292



Internal ID22680477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130961519..131092860hg38UCSC Ensembl
chr5:130297212..130428553hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38131342
hg19131342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426750
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905292
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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