A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463487



Internal ID241390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:177208588..178945069hg38UCSC Ensembl
chr4:178129742..179866223hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381736482
hg191736482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959371
Samples
Known GenesAGA, LINC01098, LINC01099, NEIL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463487
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