A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442542



Internal ID220965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128986115..129087507hg38UCSC Ensembl
chr3:128704958..128806350hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38101393
hg19101393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734970
Samples
Known GenesEFCC1, GP9, KIAA1257
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442542
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