A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463241



Internal ID241149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129970889..130040258hg38UCSC Ensembl
chr5:129306582..129375951hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3869370
hg1969370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974301
Samples
Known GenesCHSY3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463241
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