A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468136



Internal ID245939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54141351..54146761hg38UCSC Ensembl
chr4:55007518..55012928hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385411
hg195411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950076
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468136
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