A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441599



Internal ID220066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62120361..62120463hg38UCSC Ensembl
chr3:62106035..62106137hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934952
Samples
Known GenesPTPRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441599
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