A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440553



Internal ID219055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141519509..141526829hg38UCSC Ensembl
chr3:141238351..141245671hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387321
hg197321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939701
Samples
Known GenesRASA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440553
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