A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473360



Internal ID251046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121981381..122319381hg38UCSC Ensembl
chr4:122902536..123240536hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38338001
hg19338001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955163
Samples
Known GenesKIAA1109
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473360
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