A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463279



Internal ID241185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122712755..122714209hg38UCSC Ensembl
chr4:123633910..123635364hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381455
hg191455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955200
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463279
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