A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456259



Internal ID234328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126433280..126433445hg38UCSC Ensembl
chr5:125768972..125769137hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973223
Samples
Known GenesGRAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456259
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