A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458381



Internal ID236408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125040508..125041799hg38UCSC Ensembl
chr5:124376201..124377492hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972933
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458381
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