A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461748



Internal ID239694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129953655..129960498hg38UCSC Ensembl
chr5:129289348..129296191hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg386844
hg196844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974299
Samples
Known GenesCHSY3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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