A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434013



Internal ID212704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139205574..139234300hg38UCSC Ensembl
chr3:138924416..138953142hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3828727
hg1928727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940992
Samples
Known GenesPISRT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434013
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