A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459433



Internal ID237448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127291005..127768987hg38UCSC Ensembl
chr4:128212160..128690142hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38477983
hg19477983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955256
Samples
Known GenesINTU, SLC25A31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459433
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