A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902866



Internal ID22678028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80056678..80056764hg38UCSC Ensembl
chr5:79352501..79352587hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426400
Samples
Known GenesTHBS4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902866
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