A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473142



Internal ID250835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153352890..153354835hg38UCSC Ensembl
chr5:152732450..152734395hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381946
hg191946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975708
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473142
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